Sie sind auf Seite 1von 12


qxd 24/07/2003 11:46 AM Page 345


A rational approach to the child with

mental retardation for the paediatrician
Jean-François Lemay MD CPSQ FRCPC1, Anthony R Herbert BMedSc MBBS2,
Deborah M Dewey PhD3, A Micheil Innes MD FRCPC FCCMG4

J-F Lemay, AR Herbert, DM Dewey, AM Innes. A rational Une démarche rationnelle pour le pédiatre
approach to the child with mental retardation for the face à l’enfant présentant un retard
paediatrician. Paediatr Child Health 2003;8(6):345-356.
Mental Retardation (MR) is a problem encountered in almost all
Le retard intellectuel (RI) est un trouble observé dans presque toutes les
paediatric clinical settings. The assessment of a child with MR is a
cliniques de pédiatrie. Le RI constitue un diagnostic courant et un
common diagnostic and management dilemma for paediatricians.
dilemme de prise en charge pour le pédiatre. La recherche sur le RI est en
The field of MR research is currently in a state of flux regarding not
effervescence non seulement pour ce qui est de notre compréhension de
just our understanding of the condition, but also in the language and
la pathologie, mais également pour ce qui est du langage et des processus
the processes we use in naming, defining and describing MR. This utilisés pour nommer, définir et décrire le RI. Le présent article permettra
article will provide a better understanding and a rational approach de mieux comprendre le RI et d’utiliser une démarche rationnelle face au
toward MR. Prevalence rates for MR are variable in the literature and RI. Les taux de prévalence du RI sont variables dans la documentation
may be attributable to the variation in major classification systems scientifique et peuvent être attribuables à la variation des divers systèmes
and the diversity in study operation definitions and methodologies. de classification ainsi qu’à la diversité des définitions et des méthodolo-
Etiologies of MR are diverse and include many different influences. gies utilisées pour mener les études. Les étiologies du RI sont diverses et
MR most often presents during infancy or preschool years as develop- incluent de nombreuses influences. La plupart du temps, le RI se présente
mental delay. There is no universally accepted approach to the etio- pendant la première enfance ou l’âge préscolaire sous forme de retard de
logical work-up of mental retardation. The number of medical développement. Il n’existe aucune démarche universelle face au bilan
conditions associated with MR that are completely treatable by med- étiologique du RI. Le nombre de troubles médicaux associés au RI qui sont
ical means remains small. The paediatrician plays a key role estab- entièrement traitables par des moyens médicaux demeure faible. Le
lishing short and long term treatment goals, as well as providing pédiatre joue un rôle de premier plan dans l’établissement des objectifs de
support to families who have children with MR. traitement à court et à long terme, ainsi que dans le soutien aux familles.

Key Words: Children; Developmental delay; Mental retardation

OBJECTIVES ment’ (1,2). There is ongoing discussion about changing the

1. Be familiar with the common presentations and causes name from MR to one that better portrays those affected.
of mental retardation (MR). However, at the present time no consensus has been reached.
Therefore, in this paper, MR will be used in reference to this
2. Be able to approach the ‘work-up’ of a child with condition.
suspected MR in a logical and efficient manner. MR was defined by the American Association on Mental
3. Gain an appreciation for the importance of a correct Retardation (AAMR) in 1992, as an intellectual disability,
diagnosis of MR in a patient, for both the child and the existing concurrently with deficits in two or more of the fol-
family. lowing applicable adaptive behavioural skill areas: communi-
cation, home living, community use, health and safety, leisure,
INTRODUCTION AND DEFINITION self-care, social skills, self-direction, functional academics, and
MR is a problem encountered in almost all paediatric clinical work (3). Since its publication, the 1992 classification system
settings. It is the final common pathway of various pathologi- has generated healthy debate, discussion and critiques. The
cal processes that alter the functioning of the central nervous results of these activities have culminated in a new definition.
system. The field of MR research is currently in a state of flux The 2002 definition of MR by the AAMR has three compo-
regarding not just our understanding of the condition, but also nents: MR is a disability; MR is characterized by significant
in the language and the processes we use in naming, defining limitations in both intellectual functioning and conceptual,
and describing MR. The name assigned to this condition varies social, and practical adaptive skills; and MR must manifest
internationally, and other related terms include ‘general learn- before the end of the developmental period defined as the first
ing disorder’, ‘intellectual disability’ and ‘intellectual impair- 18 years of life (4). The following assumptions are essential
1Universityof Calgary, Developmental Pediatrics, Alberta Children’s Hospital, Calgary, Alberta; 2Registrar in Pediatrics, Mater Children’s
Hospital, Brisbane, Australia; 3University of Calgary, Department of Pediatrics and Behavioural Research Unit, Alberta Children’s Hospital,
Calgary; 4University of Calgary, Alberta Children’s Hospital, Calgary, Alberta
Correspondence and reprints: Dr Jean-François Lemay, Alberta Children’s Hospital, 1820 Richmond Road SW, Calgary, Alberta T2T 5C7.
Telephone 403-943-2911, fax 403-943-7865, e-mail

Paediatr Child Health Vol 8 No 6 July/August 2003 ©2003 Pulsus Group Inc. All rights reserved 345
Lemay.qxd 24/07/2003 11:46 AM Page 346

Lemay et al

when applying this new definition of MR. First, a valid assess- mates of prevalence across countries and regions may represent
ment should take into account cultural and linguistic differ- some true differences, it is also largely attributable to the vari-
ences in communication and behavioural factors. Second, any ations in the classification of MR and methodologies used by
assessment should focus on an individual’s performance during different studies (1). The most recent literature estimates an
normal daily routines and changing circumstances, and not on incidence of mild MR at 10.6 per 1000 and severe MR at 1.4
the person’s best performance. per 1000 (1). This is consistent with a recent study using a
Though far from perfect, intellectual functioning is still best national survey of 46,000 households in the United States that
represented by intelligence quotient (IQ) scores obtained from found the prevalence of MR in the noninstitutionalized popu-
appropriate assessment instruments. Performance of two SDs lation to be 7.8 people per 1000 (8). MR has been found to
below the mean of a corresponding group of people (for exam- occur more frequently in boys with a male to female ratio of 1.6
ple, in age, culture and context) on an intelligence test is usu- to one supporting the notion that an X-linked pattern of
ally required to make the diagnosis. This correlates to a score of inheritance underlies a significant proportion of cases of MR
less than 68 on the Stanford-Binet, fourth edition (SB: IV) or (9,10). Mild MR tends to be familial or polygenic compared
below 70 on one of the Wechsler tests (ie, Wechsler Preschool with severe MR, which tends to be sporadic. Severe MR has no
and Primary Scale of Intelligence, Revised [WPPSI-R]; socioeconomic, racial or geographic predilection.
Wechsler Intelligence Scale for Children, third edition,
Wechsler Adult Intelligence Scale, third edition). It should be ETIOLOGICAL CONSIDERATIONS
noted, however, that both the SB: IV and WPPSI-R are limit- Etiologies of MR are diverse and include many different influ-
ed in terms of their usefulness in establishing a diagnosis of MR ences. A survey of physicians referring patients with MR to
in children three years of age and younger (5). This is because subspecialists has shown that a high priority is given to deter-
at the earliest year levels of the test, the floor (ie, the lowest mining the cause of MR (11). Determining such etiology can
possible score that can be obtained) results in a higher IQ score be useful in counselling families about prognosis, recurrence
than at the later year levels. For example, on the WPPSI-R, risks and preferred modes of available therapy.
the lowest possible Performance IQ score at three years is 66, Malnutrition is probably the most common cause of mild
and the lowest possible Verbal IQ score is 71, whereas at age MR worldwide, in conjunction with sociocultural deprivation
five years the lowest possible Performance IQ is 47 and the and other problems related to poverty (12). In developed
lowest possible Verbal IQ is 48. As a result, in young, low func- countries, the underlying causes of MR are various and hetero-
tioning children, decreases in IQ on standardized measures geneous and can remain unknown in up to 66% of cases (10).
from three to five years of age may not indicate a serious decre- Gillerot et al (13) identified a subgroup of the population with
ment in functioning. Rather, they may be a reflection of how MR (66% of a sample of 500 children affected by mild MR)
the test was constructed. Therefore, if a young child fails most that was thought to have ‘sociocultural handicap’ due to lack
or all of the items on the SB: IV or the WPPSI-R, further of stimulation in childhood. This suggests that in a significant
assessment of the child’s functional abilities is warranted. proportion of children, mild MR is associated with growing up
Classification of individuals with MR has been divided into in a deprived environment.
‘mild’ (IQ 50 to 55, to 70 to 75), ‘moderate’ (IQ 35 to 40, to 50 Stromme and Hagberg (14) studied 178 children with MR
to 55), ‘severe’ (IQ 20 to 25, to 35 to 40) and ‘profound’ (IQ derived from a population-based series of 30,000 children born
below 20 or 25) (6). When there is significant scatter in the between 1980 and 1985 in Norway. Forty-four per cent of these
subtest scores, the profile of strengths and weaknesses, rather children had severe MR (IQ less than 50) and 56% had mild
than the mathematically derived IQ may be a more accurate MR (IQ 50 to 70) as presented in Table 1. Monogenic and
reflection of the person’s cognitive abilities. chromosomal disorders were more frequent in the severe MR
In this review, we will be presenting information on chil- group, whereas, less specific deficits were associated with mild
dren with mild MR versus children with severe MR. This dif- MR. Prenatal factors were implicated more often than perina-
ferentiation of MR into mild and severe categories may seem tal or postnatal factors combined.
to be somewhat of an artificial separation. However, most of Noteworthy, a study conducted in Atlanta, Georgia, of chil-
the published literature on the epidemiology of MR divides the dren born in the mid-1970s revealed that low birth weight was
population of individuals with MR into these two groups. In associated with a two- to fourfold increased risk for MR (15).
the newest AAMR definition, the classification of severity of Despite substantial changes in neonatal management in the
MR has been replaced by the concept of intensity of support interim, the smallest infants are still at increased risk for devel-
required. Such a classification is thought to be more function- oping mild and severe MR. Finally, a recent longitudinal fol-
al and oriented to service delivery and outcomes (1). low-up study of 242 very low birth weight infants (those
In the following sections of this article, select studies drawn weighing less than 1500 g) born between 1977 and 1979 found
from the clinical and research literature that addressed MR that they had lower mean IQs than controls. Interestingly,
and its diagnosis are presented. Most of the studies referenced approximately 7% to 8% of these very low birth weight infants
have been published during the past decade. Further, none of were found to be within the MR range on IQ testing (16).
these studies relating to the investigation of MR were under-
taken in a primary care setting. SYNDROMES ASSOCIATED WITH MR
There are a number of syndromes that have a particular genet-
EPIDEMIOLOGY ic etiology that typically have associated morphological and/or
A review of 33 studies conducted after 1963, predominantly behavioural phenotypes, and are associated with MR (Table 2).
from western industrialized countries, showed prevalence rates Down syndrome is the most common with an incidence of one
for mild MR ranged from 3.2 to 79.3 per 1000 and for severe in 650 to 1000 live births (17). Some conditions occur pre-
MR from 2.8 to 7.3 per 1000 (7). While this variation in esti- dominantly in boys (eg, Fragile X and Coffin Lowry) (18,19).

346 Paediatr Child Health Vol 8 No 6 July/August 2003

Lemay.qxd 24/07/2003 11:46 AM Page 347

A rational approach to the child with MR


Classification of etiology of 178 children with MR is also associated with a number of disorders. In this con-
mental retardation (MR)
text, ‘disorder’ refers to a condition associated with an abnor-
Severe (%) Mild (%) Total (%)
Cause (n=79) (n=99) (n=178)
mality of function. Up to 30% of cases of MR are associated
Prenatal 70 51 59
with epilepsy and/or cerebral palsy. Epilepsy has consistently
Chromosomal 22 4 12
been shown to be the single most common disorder associated
Specific syndromes 13 12 12
with MR (in 15% to 30% of cases) (9). Cerebral palsy is a stat-
Neurodegenerative 8 0 3
ic disorder of motor function that occurs as a result of injury or
Familial MR 6 9 8
abnormal morphogenesis of the motor region of the immature
Acquired 4 5 4.5
developing brain. It is found in approximately 20% to 30% of
Unspecified syndromes 9 13 11
patients with MR (9). Sensory impairments (visual and hear-
Brain anomaly 9 7 8
ing), psychiatric disorders and language deficits are also com-
mon among individuals with MR. Further, the co-occurrence
Perinatal 4 5 4.5
of these disorders tends to increase with the severity of
Postnatal 5 1 3
Idiopathic* 22 43 34 Central nervous system malformations are present in some
*Including cerebral palsy and pervasive developmental disorder. Data from patients with MR (21). This can include neural tube defects
reference 14 and hydrocephalus. In a study of 60 patients with MR, 10
(16.7%) had cerebral dysgenesis such as cerebellar hypoplasia,
In a Norwegian population-based series, X-linked recessive agenesis and/or hypoplasia of the corpus callosum, and hetero-
conditions occurred in six of 63 (9.5%) children with a genet- topia (11). Neuronal migrational disorders, such as
ic cause for their MR (14). Other conditions, such as Rett syn- lissencephaly, and defects of cortical organization, such as
drome, occur predominantly in girls (20). Fragile X syndrome polymicrogyria and schizencephaly, often present with MR
is the most frequent form of inherited MR accounting for 1% along with other features, such as seizures, spasticity and
to 6% of MR in boys (21). Angelman syndrome was found to microcephaly.
account for 1.4% of the moderately to profoundly mentally Other neurological conditions to be considered include neu-
retarded subjects screened for this syndrome in one study (22). romuscular disorders and neurocutaneous syndromes, such as
About one-third of individuals with Noonan syndrome have a tuberous sclerosis (TS) and neurofibromatosis type 1 (NF-1).
mild intellectual disability with an average IQ 10 points below One-third of patients with Duchenne muscular dystrophy can
that of unaffected family members (23). have mild to moderate MR (12). Approximately 45% to 60%
Some studies suggest that fetal alcohol syndrome (FAS) is of individuals with TS have mental disabilities (29). Seizures
the most common cause of MR among children in the United occur in 60% to 90% of individuals with TS. The degree of
States (24-26). The literature on the prevalence of FAS is far intellectual dysfunction ranges from very mild to severe.
from consistent. The occurrence of FAS can range from 0.6 to Individuals whose seizures continue after treatment and those
three per 1000 live births in most communities, with some with a large number of cortical tubers have a much greater
communities (eg, inner city regions and people of African likelihood of mental disability. MR occurs in 2% to 5% of
American or Native American background) having an patients with NF (30).
increased prevalence (26,27). People with FAS can have IQs Autism is a neurobehavioural syndrome characterized by
from well within the normal range to the severely mentally pervasive and severe deficits in verbal and nonverbal commu-
retarded range. On average, individuals with the full syndrome nication and social skills, and includes the presence of abnor-
have mild MR with IQ scores in the 60s (27). Physical anom- mal repetitive and stereotyped behaviours. It has been widely
alies can be slight or quite striking. Table 3 presents the clini- documented that the majority of individuals with autism also
cal features of FAS (27). Learning difficulties, poor attention, have MR. Bryson et al (31) reported that approximately 75% of
hyperactivity and adaptive functioning problems that grow their Canadian sample had IQs below 50. Ritvo and Freeman
more significant as the child matures have also been described (32) found that 60% of individuals with autism had IQs below
with FAS. 50, 20% had IQs in the range 50 to 70 and only 20% had meas-
It is well recognized that children who have been exposed ured IQs above 70. There is a higher incidence of autism in
to alcohol antenatally may be at risk for the primary and sec- boys, with one study (33) of 97 children finding 79.4% to be
ondary disabilities associated with antenatal alcohol exposure boys. It has also been established that, on average, the mean IQ
even if the physical phenotype is normal. For this and other scores of groups of girls with autism are slightly lower than for
reasons, different groups have attempted to create accurate, groups of boys with autism (34,35). Further, in the very severe
reproducible tools for diagnosing FAS and related conditions. and profound ranges of retardation, the sex ratio of males to
One such approach is the University of Washington 4-digit females has been found to shift from 4.1 to 2.5, to 3.0 to 1. This
diagnostic code (28). This approach attempts to score the suggests that there is an excess of girls with autism in the severe
magnitude of expression of four key features (growth deficien- range of MR (34). Bailey et al (36) observed, however, that
cy, facial phenotype, brain dysfunction and gestational alcohol autistic disorder is also noted for some strengths in cognitive
exposure) in a reproducible manner. The end result is 22 possi- skills, or ‘islets of ability’, as well as a specific pattern of deficits.
ble unique clinical diagnoses (ranging from FAS, alcohol Visual-spatial abilities are usually better in autistic individuals,
exposed to no cognitive, behavioural or sentinel physical find- often resulting in a higher Performance IQ score than Verbal
ings detected, no alcohol exposure). These specific diagnoses IQ score and, hence, an uneven cognitive profile.
can then be better used for educational planning, advocacy, While certain behavioural and cognitive features may be
reporting and research. over-represented in all patients with MR, it is important to

Paediatr Child Health Vol 8 No 6 July/August 2003 347

Lemay.qxd 24/07/2003 11:46 AM Page 348

Lemay et al

Common syndromes associated with mental retardation (MR)
and genotype Phenotype Behaviour
Down syndrome Increased maternal age or parental Facial features: upslanting palperbal Language delay
translocation increases risk of recurrence fissure, epicanthal folds, brachycephaly, and Hyperactivity, aggression and impulsivity
Trisomy 21 (95%) Brushfield spots Autistic features rare
Translocation (5%) Fifth finger: hypoplasia of midphalanx with clinodactlyly Early onset Alzheimer disease
Mosaicism (2%–4%) Simian crease
Cardiac anomalies

Fragile X syndrome X-linked

50% of girls with full mutation have MR Facial features: prominent ears, long narrow Autistic like
Increase in the number of CGG repeats (>200) face and prognathism Attention deficit disorder
present in one exon of the FMR-1 gene Macroorchidism Emotional disturbance
Hyperextensible finger joints Learning disability
Velvety skin Seizures
Tactile sensitivity

Velocardiofacial/ A microdeletion at chromosome 22q11 Extremely variable Developmental delay

22q11 microdeletion The minority (~10%) are inherited Facial features: elongated face, short palpebral Speech and/or language impairment
syndromes and behave as an autosomal dominant fissures, micrognathia Mild MR
Affected patients are at 50% risk for having Cleft palate or velopalatine insufficiency Psychiatric manifestations, including
affected offspring Conotruncal heart defect schizophrenia in adulthood
DiGeorge sequence

Williams syndrome A microdeletion of 7q11.23 Facial features: Periorbital fullness, stellate iris Developmental delay
The minority are inherited, however pattern, long philtrum, full lips and wide mouth Mild MR, but specific profile with higher
the deletion behaves as an autosomal dominant Cardiac anomalies (usually supravalvular verbal scores and lower
Affected patients are at 50% risk for having aortic stenosis) visuospatial scores
affected offspring Hypercalcemia (not mandatory, transient) ‘Over friendly’ personality
Short stature Attention deficit disorder
Generalized anxiety

Noonan syndrome Autosomal dominant inheritance, although Facial features: hypertelorism, ptosis, Learning disability – visual-spatial
25%–75% of cases are new mutations downslanting palpebral fissures problems
At least some cases caused by mutations Low set posteriorly rotated ears Language delay
in PTPN11 on chromosome 12 Micrognathia Clumsy/stubborn/irritable
Clinical genetic testing not yet available Curly woolly hair Psychiatric disturbances
Webbed neck
Valvular pulmonary stensois
Short stature

Rett syndrome Most cases de novo mutations Normal development followed by reduction or loss Hand stereotypes
Familial cases occasionally described of skills (onset 6 months to 3 years) and Breathing dysfunction (eg, periodic apnea
Gene encoding X-linked methyl-CpG- cessation of head growth when awake and aerophagia)
binding protein 2 (MECP2) Loss of purposeful hand movements and speech Severe language impairment
Located at Xq28 Spasticity/ataxia
Peripheral vasomotor disturbance

Angelman syndrome Usually de novo with low recurrence risk Facial features: large mandible, Language severely impaired or absent
Associated with a variety of molecular open-mouthed expression Excessive laughter
mechanisms resulting in an absent or Hypotonia Autistic features and aggression
nonfunctioning maternal allele on chromosome Jerky arm movements may be seen
15q11-q13 Cheerful and smiling Repetitive/stereotyped behaviour
A smaller proportion of cases (<15%) has mutations
of the maternal copy of UBE3A or other genes on
15q11-q13. Here the recurrence risk may be 50%

348 Paediatr Child Health Vol 8 No 6 July/August 2003

Lemay.qxd 24/07/2003 11:46 AM Page 349

A rational approach to the child with MR

know that specific behavioural patterns may be associated with TABLE 3

certain genetic syndromes. Recognizing these so-called ‘behav- Clinical features of fetal alcohol syndrome (FAS)
ioural phenotypes’ may lead to the correct diagnosis of the Confirmed maternal alcohol exposure – it is still possible to make the
underlying genetic syndrome, allowing for accurate genetic diagnosis without confirmation of this
counselling and anticipatory care. Examples include: the over- Evidence of characteristic pattern of facial anomalies that includes features
friendliness and anxiety of children with Williams syndrome such as short palpebral fissures and abnormalities in the premaxillary
(37); the self-injurious or self-stimulatory behaviour and severe zone (flat upper lip, flattened philtrum and flat mid-face). These features
sleep disturbances of children with Smith-Magenis syndrome can be partial
(38); the obsessions and compulsions of children with Prader- Evidence of growth retardation in at least one of the following (low birth
Willi syndrome (39); or the social anxiety, sensory defensive- weight for gestational age, decelerating weight over time not due to
ness and hyperactivity of boys, and some girls, with Fragile X nutrition, disproportional low weight to height)
syndrome (40). Specific molecular or molecular cytogenetic Evidence of central nervous system neurodevelopmental abnormalities as
tests exist for these and many other genetic syndromes associ- in at least one of the following:
ated with recognizable behavioural phenotypes. – Decreased cranial size at birth
In addition to the above disorders, studies have reported – Structural brain abnormalities (microcephaly, partial or complete
significant psychiatric morbidity in individuals with MR. agenesis of the corpus callosum, cerebella hypoplasia)
Hoare et al (41) found that 38% of 143 children with severe – Neurological hard or soft signs such as impaired fine motor skills,
disability had significant psychiatric morbidity. Psychiatric dis- neurosensory hearing loss, poor tandem gait, poor eye-hand
orders such as depression (including bipolar affective disorder), coordination
psychosis and anxiety disorders (including obsessive compul-
sive disorder and phobias) were noted. Behavioural problems
were also reported to be prominent in another study. They
included problems in feeding, elimination, sleeping, hyperki- ference) and the skin (looking at neurocutaneous stigmata,
nesis, hypokinesis, stereotyped behaviours, self-injurious abnormal pigmentation and dermatoglyphics) (29,46).
behaviour and licking. Further, these behaviours were closely Dysmorphic features looking especially at the face, hands and
associated with cognitive development level (42). feet and genitalia can be suggestive of aneuploidy. This is par-
ticularly the case if there is reduced family resemblance. The
CLINICAL ASPECTS OF THE DIAGNOSIS presence of three minor anomalies and/or unusual appearance
MR most often presents during infancy or preschool years as helped to make a diagnosis of MR in one Canadian series (47).
developmental delay. Other presentations may include con- Finally, a detailed neurological examination should always be
genital hypotonia, seizures, feeding problems, or other symp- performed.
toms associated with CNS malformations. Milder forms of MR Clinical photographs may be useful to document and follow
may not be picked up until the school years. Impairments in findings. A behavioural phenotype may be apparent after
adaptive functioning, rather than low IQ, are the usual pre- observing cognitive, language and social skills during the con-
senting features. Lack of communication skills may predispose sultation. Audiological assessment and an ophthalmological
to disruptive and aggressive behaviours. Therefore, careful review can supplement the initial clinical examination.
attention to the rate of development in separate developmen- Information from other sources (eg, past health records,
tal streams in children is very important. teacher reports) may also be of help.
The history, including pre-, peri- and postnatal features, Obviously, the need for referral depends on the comfort and
could assist in determining an etiology. The use of prescribed competency of the primary practitioner to take the history out-
medications and other drugs during pregnancy should be close- lined above and elicit the appropriate clinical findings. Access
ly reviewed. Consumption of an average daily alcohol volume to and familiarity with the investigations, which are outlined
of one or more drinks during pregnancy has been associated below, will also play a role in the decision of whether to refer.
with an increased risk of FAS and related disorders (43). A A number of recent reports have highlighted the beneficial
rash or fever during the pregnancy should raise the possibility role played by subspecialist involvement (be it by a neurolo-
of a congenital infection. Recurrent unexplained illness, gist, geneticist or developmental paediatrician) in the diagno-
seizures or loss of psychomotor skills raise the possibility of a sis and management of MR (47,48).
metabolic disorder. Childhood human immunodeficiency
virus-related encephalopathy may also present with unex- INVESTIGATIONS
plained illnesses and global impairment of cognitive and social There is no universally accepted approach to the etiological
functioning (44). Gathering a careful family history is essential work-up of developmental delay and MR (49). A consensus
in the etiological search of MR. A three-generation pedigree, conference using available literature and expert opinion spon-
paying attention to unexplained deaths in infancy and/or sored by the American College of Medical Genetics in 1995
childhood, recurrent fetal losses, learning problems, psychi- attempted to identify some consensus recommendations and is
atric disorders, nonspecific developmental problems, autism summarized in Table 4 (50). Selective laboratory testing in
and MR in relatives as well as inquiring about consanguinity, is most patients should include a karyotype at the 500-band lev-
mandatory. el, especially if the diagnosis is not apparent. Chromosomal
When MR is suspected, the child should always have a abnormalities are one of the most common causes of MR (10).
complete physical examination. A thorough physical examina- The severity of MR and presence of congenital anomalies has
tion helped to determine a diagnosis in 22 of 120 patients been thought to increase the yield of abnormality (50).
(18.3%) in one study (45). Such an examination should incor- Fluorescent in situ hybridization (FISH) allows the detec-
porate a review of growth parameters (including head circum- tion of gain and/or loss of genetic material from 0.1 megabases.

Paediatr Child Health Vol 8 No 6 July/August 2003 349

Lemay.qxd 24/07/2003 11:46 AM Page 350

Lemay et al

Key features of management of mental retardation (MR) Features to suggest a metabolic disorder
Key aim is to improve or maximize quality of life History Consanguinity between parents*
Establish an etiology (helps to provide information to parents about Family history of apparent life-threatening events or SIDS*
recurrence and prognosis). Rarely will the condition be curable or Growth failure*
treatable Recurrent unexplained illness (eg, vomiting)*
Anticipate future medical problems. For example see Management of Chronic gastrointestinal symptoms
Genetic Syndromes (65) Recurrent lethargy or coma*

Intervene early (with appropriate allied health referrals, educational, financial Seizures*

and respite services) Ataxia

Loss of skills
Review the patient at regular intervals (annually until school age and a
Unexplained deafness
re-evaluation at puberty) if possible. Ensure a smooth transition to adult
medical services Examination Hypotonia* Arachnodactyly
Microcephaly* Hepatosplenomegaly*
Explore long term placement options at an early stage
Coarse appearance* Skeletal abnormalities
Modify behaviours that may harm the individual, place stress on primary
Eye abnormalities* Skin or hair abnormalities*
care givers and minimize the chances of involvement in a day program
Abnormal sexual differentiation Unusual odour
Adopt a family-focused approach looking at the needs of parents and
Investigations CNS malformations (may be Hypoglycemia*
siblings (particularly in the context that strong sibling relationships
picked up on antenatal Low cholesterol
increase the chance of an individual with MR of not being
ultrasound) Cardiomyopathy*
Metabolic or lactic acidosis*
Awareness of the role of prevention (especially in relation to fetal alcohol
Act as an advocate for those with MR
*Denotes conditions that may be detected in the neonatal period and during
infancy. CNS Central nervous system; SIDS Sudden infant death syndrome

FISH probes exist for such disorders as Williams syndrome, in known syndromes unless there are additional neurological
Velocardiofacial syndrome, Smith-Magenis syndrome and signs not consistent with the diagnosis.
some cases of Prader-Willi and Angelman syndromes. Such Careful analysis of brain neuroimaging, combined with a
microdeletion syndromes represent cytogenetic alterations not detailed history and physical examination, enables clinicians
observed in a routine karyotype. These probes should be con- to establish etiological links and insights into the develop-
sidered when clinically indicated (Table 2). It is important to mental brain problems associated with MR. Recent investiga-
remember that if FISH testing is ordered, you must specify tions have reported that high intensity lesions on
which disorder is under consideration. Direct diagnosis by T2-weighted images and hyperintense lesions on T1-weighted
DNA analysis for Fragile X was described by Rousseau et al images could be disease specific abnormalities for NF-1 (53).
(51). It should be considered in both boys and girls with unex- Although the significance of such lesions and their relation-
plained MR, especially in the presence of a positive family his- ship to clinical features such as MR has not been established,
tory, or a suggestive physical or psychiatric phenotype (50). It this is an example of how imaging techniques are shedding
has been argued that screening for Fragile X in all patients with new insights into conditions associated with MR (54). It
idiopathic MR would result in the detection in 0.6% to 14% of remains controversial, however, whether neuroimaging is
the cases, even if there were no features to suggest the diagno- indicated in all cases of NF-1.
sis (21). There is debate, however, about whether Fragile X It has been argued that routine metabolic screening should
screening can be refined with screening checklists (47,52). be abandoned because of its low yield in the work-up of MR
Neuroimaging should be considered in patients without a (48). Endocrine and metabolic causes of MR accounted for
known diagnosis especially in the presence of focal neurologi- only 0.8% of causes of MR in a survey of children born in
cal abnormalities, cranial contour abnormalities, macro- California (10). This figure is in agreement with a recent
cephaly, or microcephaly (50). Shevell et al (48) found that Australian study that showed the diagnostic yield of urine
imaging studies performed for a specific indication (eg, micro- amino and organic acid screening tests to be 1.1% for patients
cephaly) were more than three times as likely to result in an with ‘developmental delay’ or ‘intellectual disability’ (55). The
etiological yield than when done on a screening basis. The authors of this study (55) argue that despite the low diagnostic
magnetic resonance imaging (MRI) scan is superior to the yield, these investigations should still be strongly considered.
computed tomography (CT) scan because it provides more Specific therapies were available for 69% of the diagnoses and
accurate images of the structures of the posterior fossa and of 87.5% had known Mendelian or mitochondrial inheritance. It
maturational differences in the brain including myelination. A is argued that the expense of these investigations is outweighed
higher rate of abnormality detected by MRI compared with CT by the early diagnosis of inborn errors of metabolism. Such
has been observed in the literature (47). There is also lack of benefits include early therapeutic intervention, assisting cou-
exposure to ionizing radiation. The CT scan is useful, howev- ples in making reproductive decisions and the potential
er, for conditions associated with intracranial calcifications reduced costs to society with respect to the long term super-
and suspected craniosynostosis. Neuroimaging is not required vised care that affected individuals may require as adults.

350 Paediatr Child Health Vol 8 No 6 July/August 2003

Lemay.qxd 24/07/2003 11:46 AM Page 351

A rational approach to the child with MR

Certainly, if the clinical picture suggests such a cause (eg, TABLE 6

growth failure, hypoglycemia or acidosis), then metabolic stud- Investigations recommended in work-up of mental
ies are mandatory (Table 5). Such a screen would include
Highly suggested Dependant on clinical findings
screening the urine (amino acids, organic acids, complex and
simple sugars and mucopolysaccharides) and blood (plasma Banded karyotype Cerebral imaging
amino acids, serum lactate and serum ammonia). Molecular study for Fragile X Metabolic studies including thyroid function
In addition, other metabolic investigations that may be studies
considered depending on the scenario could include very long Electroencephalogram
chain fatty acids, serum 7-dehydrocholesterol and total choles- Disease-specific molecular or molecular
terol, thyroid function studies, lactate to pyruvate ratios and cytogenetic studies
cerebral spinal fluid studies (lactate, amino acids and glucose).
These latter investigations should not be considered ‘routine’
in the investigation of MR.
A creatinine phosphokinase may be fruitful in boys in the to generalize the yield of such tests to all populations (49). It
preschool years presenting with developmental delay, particu- has been suggested that a multisite, protocol-driven study
larly, if there are concerns about gross motor skills given the would be of value in obtaining a degree of uniformity in inves-
association of MR with some forms of muscular dystrophy such tigations carried out and hence allow some estimation of the
as Duchenne. Congenital infection accounted for 0.4% of the yield of the investigations outlined above.
patients with MR in the study by Croen et al (10). Serology,
however, is not useful in diagnosing such infections beyond the MANAGEMENT
newborn period. The aims of paediatric management are to provide support to
Battaglia et al (45) found a relatively high diagnostic yield people with MR and their families and to assist them in creat-
(8.3%) in the group of patients they assessed using electroen- ing personally satisfying lives (Table 4). It is vital that the prac-
cephalogram (EEG). The use of EEG should be considered in titioner not fail to diagnose specific syndromes or treatable
any patient with seizures and/or epilepsy. Seizures often co- genetic conditions. Patients with MR, along with their fami-
exist with Rett and Angelman syndromes. Table 6 summarizes lies, benefit from a directed clinical and laboratory evaluation
the investigations outlined above and is in keeping with aimed at establishing etiology, as outlined in the preceding
“Evaluation of mental retardation: Recommendations of a paragraphs. This in turn provides a focus for education about
Consensus Conference” (50). the diagnosis and counselling about prognosis. Paediatricians
Despite all of the tests at our disposal, the majority of cases of must be aware, however, that most causes of MR are not treat-
MR, even when there is a presumed ‘genetic’ origin, remain able directly. Nevertheless, accurate diagnosis may aid in
unexplained. For this reason, new technologies are being devel- genetic counselling, and alleviate parental guilt. More impor-
oped. At present, one exciting new test modality is the ability to tantly, even if an etiological diagnosis cannot be made, the
screen for subtelomeric chromosome deletions. The telomeres provision of sound advice and emotional support from both the
are the gene-rich ends of the chromosomes. It is now recognized primary physician and sometimes from other parents (through
that a significant proportion (perhaps 7% to 10%) of unex- support groups) can assist in planning for future needs.
plained MR is actually due to small deletions or rearrangements While few details of the consultation in which a diagnosis
of the chromosomes at the telomeres that cannot be seen by rou- (or lack thereof) will be remembered in later years, the way in
tine cytogenetics. The results of such tests are of clinical impor- which this information is conveyed may well be. In a study of
tance because occasionally the parents may be carriers of 103 parents of children with severe physical disability, only
‘cryptic’ subtelomeric rearrangements and would be at risk for 37% of parents were satisfied with how the disclosure was
further affected offspring (56). While these tests are not yet made (58). Key components leading to increased satisfaction
widely available, these and other tests should become more in this study included a sympathetic and approachable manner,
accessible on a clinical basis within the next few years. It combined with direct and clear communication. A range of
remains to be seen whether specific checklists may help triage emotions and reactions from the parents is possible, ranging
which patients should be studied using these techniques (57). from wanting to be left alone to having questions answered
It should be noted that most of the studies cited were per- immediately (59). Research has demonstrated that parents
formed by subspecialists (eg, neurologists, developmental pae- wish to be given as much information as early as possible and
diatricians or geneticists). Therefore, general paediatricians to be treated as the people primarily responsible for their child
may be unlikely to undertake such investigations. However, it (60). Physicians can learn directly from parents and people
is useful for them to be aware of the above tests and procedures with MR about the best way to communicate a diagnosis of
so that they can refer patients who may be appropriate. While MR. A summary of key components involved in informing
some studies of investigations of MR in children have been ret- parents about a diagnosis of MR are presented in Table 7.
rospective chart reviews (45,47), there have also been some Recurrence risks, where appropriate, and guidelines for
prospective studies conducted (48). All these studies have management, such as referral to appropriate services for thera-
confirmed that the most important aspect of any evaluation py, education, financial and other support services should be
remains a thorough history and physical examination (49). It addressed (50). Provision of accurate recurrence risk coun-
can be argued that laboratory investigations should be used in selling depends on identifying the correct underlying diagno-
a ‘directed fashion’ rather than as ‘screening’ tools (49). This sis. If a specific diagnosis is reached, then the possibility for
was the case in the study by Shevell et al (48) where physicians carrier testing or prenatal diagnosis may exist. In addition, the
did not follow a specified template, but rather used their own child with MR should personally receive recurrence risk coun-
discretion when ordering tests. However, this makes it difficult selling in adolescence or adulthood when appropriate. If a spe-

Paediatr Child Health Vol 8 No 6 July/August 2003 351

Lemay.qxd 24/07/2003 11:46 AM Page 352

Lemay et al

TABLE 7 typical example is phenylketonuria (PKU). The profound MR

Key components in conveying a diagnosis of mental and autistic features associated with untreated PKU can now
retardation (MR)
be completely prevented by dietary manipulation. It is for this
Attitude Acknowledge that the child is valued and the parents are
reason that newborn screening programs for PKU exist in vir-
respected. It is important to handle the child in a positive and
tually every jurisdiction. It is now recognized that treatment
caring manner. It is probably best to have the child present.
for PKU should continue life-long to prevent subtle effects on
Confidentiality should be maintained
IQ and performance. It is also well known that women with a
Location Choose a private room to talk without interruptions. Inclusion of
known history of PKU, or with a previously undiagnosed case
unnecessary persons or students should be avoided
of hyperphenylalaninemia, are at significant risk for having
Personnel If possible, experienced staff should convey the news. Parents children with MR. For this reason, strict management is need-
could be seen by two health workers – one to provide factual ed during pregnancy. In addition, consideration should be giv-
information (eg, paediatrician) and one who is available to work en to checking a mother’s plasma amino acids if she has
with parents toward adaptation or understanding (nurse or children with MR and microcephaly with or without congeni-
social worker). It is best (if possible) to have both parents tal heart disease (67). In other disorders associated with MR,
present specific therapies may help at least modify behavioural symp-
Language Interpreter should be present if English is not the first language toms. The autosomal recessive disorder Smith-Lemli-Opitz
Content Present information in a direct, sympathetic and understandable (SLO) syndrome is caused by an inborn error of cholesterol
manner. Be balanced in how the disability is discussed and its metabolism. Replacement therapy with high doses of cholesterol
implications for the future. Clarify the plan for the immediate is associated with improved growth in patients with SLO. Many
future. It may be necessary to repeat information on a number of the behavioural manifestations of SLO may also improve with
of occasions (a follow-up consultation is advised) cholesterol therapy, however, the MR cannot be reversed (68).
Questions Allow time for questions; any information that cannot be Some of the severe behavioural and sleep disturbances associat-
immediately provided should be openly acknowledged and ed with Smith-Magenis syndrome respond to treatment with
clarified as soon as possible melatonin or beta-adrenergic antagonists (69).
Support Provide verbal and written information about support and Identification of developmental disabilities may enable
interest groups children to be placed in an early intervention program. Such
programs can promote development of language, physical,
behavioural and self-help skills, and provide educational inter-
vention to prepare the child for school (eg, applied behaviour
cific diagnosis cannot be identified, then it is appropriate to analyses for children with autism, early speech and language
quote ‘empiric’ recurrence risk figures, which vary depending therapy for children with significant language delays). During
on the scenario (61). the school years, integrated programs with appropriate support
It is important that the practitioner has an intricate knowl- can allow ongoing development. In the case of FAS, it is
edge of community resources for the family. Services will vary important to recognize that although children are affected by
from province to province and may involve both government prenatal exposure to alcohol, a great deal of neurological
and subsidized agencies. Services for children of different ages development occurs postnatally and if child care, nutrition and
may also be provided by different government departments. the environment are adequate it is probable that children can
For the family of a child with MR, this array of services may be make considerable progress. Adequate education and training,
confusing. Obviously each family will have their own particu- together with protection from negative child rearing environ-
lar needs for their child but the United Nations has listed a ments and attention to predictable crises at various develop-
number of services that governments should provide (62). This ment stages, can make the difference between achieving a
includes provisions discussed elsewhere including information, reasonable degree of independence and life satisfaction com-
counselling and consumer or parent support groups. Other pared with other more negative outcomes (27). Similarly,
important services include financial assistance, equipment (at intervention with children with autism has shown that these
low cost), recreation or community access facilitation and, children can show improvements in their functioning regard-
ultimately, vocational training. Respite care (often with other less of the type of intervention (70). It has been argued that
families) has been found to be an important resource for fami- early guidance and monitoring of subjects and their families
lies of children with MR, particularly if the primary caregiver thought to have ‘sociocultural handicap’ due to lack of stimu-
has some underlying distress (41). Further, it has been found to lation in childhood could have a large impact on the reduction
reduce the incidence of child maltreatment (63). of this condition (13). Thus, early educational and psychoso-
The medical practitioner also plays a crucial role in manag- cial intervention with all children with MR and their families
ing medical problems, such as those related to nutrition, could have a significant impact on the eventual outcome.
epilepsy and spasticity. The incidence of feeding problems in Repeat assessments, especially if a diagnosis has not been
those with MR has been estimated to be 33% in the literature reached, are recommended as the phenotype (either physical
(64,65). Anticipatory guidance on expected medical compli- or psychiatric) may develop over time. The features of many
cations is also of benefit to the patient and family. There are syndromes, such as Fragile X syndrome, are neither specific nor
now some excellent resources to help physicians and other constant and can evolve over time. It is preferable to continue
healthcare professionals manage their patients who present monitoring a patient rather than risk making a diagnosis that
with common syndromes. One such example is the textbook may need to be retracted at a later time. For such patients,
Management of Genetic Syndromes (66). annual evaluations until school age and a revaluation at puber-
The number of medical conditions associated with MR that ty are considered to be appropriate, when possible (50). Fifteen
are completely treatable by medical means is small. The proto- per cent of children had their etiological diagnoses revised in

352 Paediatr Child Health Vol 8 No 6 July/August 2003

Lemay.qxd 24/07/2003 11:46 AM Page 353

A rational approach to the child with MR

one recent study (14). The ability to reach a diagnosis is also these facets will lead to improved quality of life. Inappropriate
likely to increase slowly over time as newer molecular and/or sexual behaviour can often be managed by changes in the
cytogenetic techniques and improved intracranial imaging environment, training of the care givers and behaviour pro-
methods evolve. Evaluating the patient over time also allows a grams. Such behaviour may lead to social isolation and lack of
‘step-wise’ rather than a ‘shotgun’ approach to investigations. opportunity and should be anticipated at the time of puberty.
Prognostic and reproductive counselling is also best done over Restrictions in finances and time, and the lack of a clear
a longer time frame. alternative may add pressure to use medication to resolve the
One challenge for the paediatrician, related to the difficulty behavioural problem (83). While there are some situations
of making a definitive diagnosis of MR in a preschool child, is where medication may result in improvement, there is no sol-
not to miss the ‘window of opportunity’ for early intervention. id research evidence of their benefit (83). Certainly medica-
The family environment can act as a source of strength or tion can be considered when there are unacceptable
alternatively as a source of stress for a child with MR. Strutton restrictions on the person’s lifestyle or stigmatization of that
(71) noted that a family member with MR brings to family person within a community. Such therapeutic options may
members (be it father, mother, grandparent or sibling) different include beta blockers, psychotropics, and serotonin-selective
ways of coping with the changes. Research that has investigat- reuptake inhibitors (SSRIs) (84). Risperidone, a psychotropic
ed parental coping has found that mothers of children with drug, has the advantage of not having the degree of sedation or
MR experience more stress and problems in psychosocial parkinsonian adverse effects of the older psychotropics, but ini-
adjustment than fathers (72-75). In addition, both mothers tial orthostatic hypotension is common (83).
and fathers are at higher risk for depression than parents of typ- Depression may be difficult to diagnose in people with
ically developing children (73). Investigations of siblings of developmental disability making a trial of an SSRI worth con-
children with MR suggest that they experience unique stresses. sidering. Citalopram has been found to be a safe and effective
There is conflicting evidence about whether siblings receive antidepressant in mentally retarded subjects with depressive
less attention and possibly even fewer holidays and outings disorders (85). Aggression may sometimes be due to irritability
than their friends (71). Studies have also suggested that sib- associated with depression. SSRIs may have a beneficial effect
lings of children with MR take on more caretaking responsibil- due to both their antidepressant and anxiolytic effects on
ities in the household than siblings of typically developing aggressive behaviour. Recently, fluoxetine has been found to
children (76,77). Many siblings may be unable to account for modify aggressive behaviour even without proven depression
or understand their parent’s increased level of preoccupation, (86). The response to treatment of any pharmacological treat-
sadness or anger at the realization that a family member has ment should be monitored regularly and weighed against any
MR (71). Further, siblings of children with MR may feel that adverse effects. The temptation to continue increasing doses
their parents favour the disabled children (78). Some siblings, should be avoided at the expense of exploring other possible
however, cope quite well with having a disabled sibling causes and management options of problem behaviours.
(80,81). Exploring the changed relationships that a child with Chemical restraint of such patients should be avoided at all
MR brings to a family should not be neglected and requires costs. Finally, the involvement of child psychiatrists may be
time and expertise. strongly considered especially with these above issues.
Despite the additional stress associated with having a child Most studies investigating stimulant medication in children
with MR, many families take on the responsibility of caring for with attention deficits excluded patients with MR, despite
the child (with MR) with love. Unfortunately, this is not attention deficit and hyperactivity being common clinical
always the case (71). There is evidence to suggest that siblings problems in this group. Approximately 7% of mentally retard-
of children with MR are well adjusted (80). Krauss et al (81) ed children received stimulant medication in one series (87).
found that this continues into adult life with a high level of There have been only a few controlled trials looking at the
contact between siblings with disabilities and siblings without efficacy of stimulant medications in children with MR and
disabilities. In one study, 41% of siblings without disability attention deficit hyperactivity disorder (88). It is thought that
reported in-person visits to their sibling with a disability at children with an IQ between 45 and 75 respond in a similar
least once a week or more, while 58% reported living within a way to children with a normal IQ, with improvements being
30-min drive of each other’s residence. Among the most com- observed in impulsivity, hyperactivity and attention deficits
monly shared activities were going to a restaurant (63%), (88). Only minor effects were observed in social skills and aca-
shopping together (56%) and going to the movies (44%) (81). demic performance. Stimulant response is much lower in chil-
Behaviours associated with self-harm, harm to others, dam- dren between four and five years of age, and is not
age of property should be monitored for, as this will obviously recommended for those younger than three years. A positive
hinder social interaction. Appropriate behavioural modifica- effect of methylphenidate has not been documented in chil-
tion, such as applied behaviour analysis, may assist with such dren with Fragile X syndrome or an IQ less than 45 (88,89).
difficult behaviours(82). Any behaviour modification program Finally, children with MR are at greater risk of developing side
will require a thorough description of the problem behaviours effects, with up to one in five children stopping therapy due to
including possible triggering factors. Behavioural interventions tics and social withdrawal (90). More research is needed in this
are normally developed and implemented by a psychologist. area particularly looking at the efficacy of stimulants combined
The paediatrician can, however, provide support and assis- with a parent’s training program or behavioural modification
tance with the intervention plan. Modifications of such program and the effects of stimulants on the long term course
behaviours will reduce stress on the family, make it easier for of MR.
participation in an educational and/or day program, and ulti- When considering the management of children with MR, it
mately improve the chances of the individual being able to live is also important to consider the important role of preventive
in the noninstitutionalized community in the long term. All medicine. Vaccination against rubella infection can protect

Paediatr Child Health Vol 8 No 6 July/August 2003 353

Lemay.qxd 24/07/2003 11:46 AM Page 354

Lemay et al

pregnant women and thus reduce the occurrence of multiple • Being an advocate for the parent(s) or caregiver (s) and
disabilities. Public education about the effects of environmen- helping them to advocate rights for their child.
tal teratogens such as cigarette smoke, alcohol and other sub- This review has sought to provide a definition of MR and its
stance abuse is crucial. Neonatal screening programs can allow severity. The assessment of a child with MR is a common diag-
early treatment of conditions such as PKU and congenital nostic and management dilemma for paediatricians. The
hypothyroidism. Finally, genetic counselling can outline the prevalence of mild MR varies inversely with socioeconomic
risks involved to future children and allow parents to make an status of the family, but moderate-to-severe MR occurs with
informed decision about whether to have any further children. equal frequency across all social classes. Therefore, diagnosis of
MR includes a search for etiology in every case in childhood.
PROGNOSIS A number of etiologies should be strongly considered
An important role for the physician is to assist families in plan- including chromosomal abnormalities, Fragile X syndrome and
ning for the future of their disabled child. This includes the FAS. A thorough and careful delineation of the degree and
transition to adult medical care. The prognosis is in part deter- profile of cognitive deficits and any associated dysfunctions
mined by the underlying diagnosis or syndrome if found (6). should be done in all cases of suspected MR. The sociocultural
Children with mild MR can often acquire social and vocation- and home environment should also be evaluated. There are a
al skills adequate for minimum self-support. They may need number of key points in the history (prenatal factors, family
supervision and assistance, especially when under stress. Most pedigree) and examination (skin, growth parameters, dysmor-
individuals with moderate MR acquire communication skills phisms, neurology) that may help point to a diagnosis or sug-
during the early childhood years. They may learn to travel gest the timing of the insult.
independently to familiar places and in their adult years are A banded karyotype and Fragile X molecular study should
able to perform unskilled or semiskilled work under supervision be strongly considered in all patients, particularly if there is a
in sheltered workshops or the general work force. Those with suggestive family history or no other apparent diagnosis. MRI
severe MR may learn to talk during the school years and can be of the head is the preferred mode of imaging but is not manda-
trained in elementary self-care skills. In the adult years, they tory. However, it should be considered if there is abnormal
can perform simple tasks in closely supervised settings. head size or cranial contour, seizures, neurocutaneous stigmata
Vocational support can provide dignified and productive work or neurological findings. Metabolic screens and EEG are likely
and leisure pursuits. to have a low yield unless there are specific clinical indica-
Most adults with severe MR will live in the community in tions, which were outlined above. The involvement of a sub-
group homes or with their families, unless an associated hand- specialist (genetics, neurology or developmentalist) is likely to
icap requires specialized nursing or other care (91). The provi- augment the above work-up and help with counselling about
sion of community-based residential support for people with prognosis and recurrence.
MR and their families may enable the person to remain a part Repeat assessments are quite beneficial, particularly if the
of his or her community and avoid institutionalization. After diagnosis is not apparent. Anticipating possible medical com-
reviewing the literature, Seltzer and Krauss (91) observed that plications and referral to appropriate agencies (therapy, educa-
most patients with MR (60%) live at home with their families tional, support, financial) early on is key to management. Long
as opposed to in institutions (15%). The important role of rela- term planning, such as vocational training, living arrange-
tionships with siblings and planning for care of adults who no ments and medical care in the adult years, is also best started
longer have family has been noted in the literature (91). sooner rather than later. The paediatrician has a central role
Features that may negatively affect the quality of life of adults in establishing short and long term treatment goals, as well as
who live at home include poor functional and cognitive abili- providing support to families who have children with MR.
ties, more serious behavioural problems and nonparticipation
in a day program. These features make it less likely for the
adult to have friends or a sibling willing to become a caregiver. ACKNOWLEDGEMENTS: We would like to thank Brenda
Adults with no explicit future plan for placement are at risk for Greig for her support and assistance in the preparation of this
emergency placements or placements not consistent with the manuscript.
parents’ wishes.
Individuals with MR who do not have appropriate supports
are vulnerable to exploitation by others or being denied rights 1. Leonard H, Wen X. The epidemiology of mental retardation: Changes
and opportunities. Access to advocacy can support the person and opportunities in the new millennium. MRDD Res Rev
with MR and the family and also press service providers and 2002;8:117-34.
governments to respond appropriately to their needs. 2. Matson JL, Mayville EA, Lott JD. The relationship between
behaviour motivation and social functioning in persons with
Enlightened policy and legislation can establish and support intellectual impairment. Br J Clin Psychol 2002;41:175-84.
the rights of people with MR as citizens (92). 3. American Association on Mental Retardation. Mental Retardation:
Definition, Classification, and Systems of Support, 9th edn.
CONCLUSION Washington: American Association on Mental Retardation, 1992.
The key to managing children with MR involves four basic 4. American Association on Mental Retardation. 2002 AAMR
Definition, Classification, and Systems of Support. (October 17,
elements: 2001). <> (Version current at
• Early identification. March 31, 2003).
5. Sattler JM. Assessment of Children: Cognitive Applications, 4th edn.
• Determination of an underlying etiology (if possible). San Diego: Jerome M Sattler, 2001.
6. American Psychiatric Association. Diagnostic and Statistical Manual
• Prompt provision of rehabilitation or support services. of Mental Disorders, 4th edn. Washington: American Psychiatric

354 Paediatr Child Health Vol 8 No 6 July/August 2003

Lemay.qxd 24/07/2003 11:46 AM Page 355

A rational approach to the child with MR

Association, 1994:41-7. 34. Lord C, Schopler E. Differences in sex ratios in autism as a function
7. Roeleveld N, Zielhuis G, Gabriels F. The prevalence of mental of measured intelligence. J Autism Development Disabil
retardation: A critical review of recent literature. Dev Med Child 1985;15:185-93.
Neurol 1997;39:125-32. 35. Wing L. Sex ratios in early childhood autism and related conditions.
8. Larson SA, Lakin KC, Anderson L, Kwak N, Hak Lee J, Psychiatry Res 1981;5:129-37.
Anderson D. Prevalence of mental retardation and developmental 36. Bailey A, Phillips W, Rutter M. Autism: Towards an integration of
disabilities: Estimates from the 1994/1995 National Health Interview clinical, genetic, neuropsychological, and neurobiological
Survey Disability Supplements. Am J Ment Retard 2001;106:231-52. perspectives. J Child Psychol Psychiatr 1996;37:89-126.
9. McLaren J, Bryson SE. Review of recent epidemiological studies of 37. Greer MK, Brown FR, Pai GS, Choudry SH, Klein AJ. Cognitive,
mental retardation: Prevalence, associated disorders and aetiology. adaptive, and behavioral characteristics of Williams syndrome. Am J
Am J Ment Retard 1987;92:243-54. Med Genet 1997;4:521-5.
10. Croen LA, Grether JK, Selvin S. The epidemiology of mental 38. Dykens E, Smith ACM. Distinctiveness and correlates of
retardation of unknown cause. Pediatrics 2001;107:E86. maladaptive behavior in children and adolescents with Smith-
<> (Version Magenis syndrome. J Intellect Disabilit Res 1998;42:481-9.
current at March 31, 2003). 39. Dykens EM, Leckman JF, Cassidy SB. Obsessions and compulsions
11. Majnemer A, Shevell MI. Diagnostic yield of the neurologic in Prader-Willi syndrome. J Child Psychol Psychiatr
assessment of the developmentally delayed child. J Pediatr 1996;37:995-1002.
1995;127:193-9. 40. Hagerman RJ. Physical and behavioral phenotype. In: Hagerman RJ,
12. Chiurazzi P, Oostra BA. Genetics of mental retardation. Curr Opin Cronister A, eds. Fragile X Syndrome: Diagnosis, Treatment and
Pediatr 2000;12:529-35. Research, 2nd edn. Baltimore: The Johns Hopkins University Press,
13. Gillerot Y, Koulischer L, Yasse B, Wetzburger C. The geneticist and 1996:3-87.
the so-called “socio-cultural” familial mental retardation. J Genet 41. Hoare P, Harris M, Jackson P, Kerley S. A community survey of
Hum 1989;37:103-12. children with severe intellectual disability and their families:
14. Stromme P, Hagberg G. Aetiology in severe and mild mental Psychological adjustment, carer distress and the effect of respite care.
retardation: A population-based study of Norwegian children. J Intellect Disabil Res 1998,42:218-27.
Dev Med Child Neurol 2000;42:76-86. 42. Hashino K, Iida J, Iwasaka H, et al. A study of cognitive
15. Merris C, Decoufle P, Murphy C, Yeargin-Alsopp M. Low development and behavior problems in mentally retarded children.
birthweight and the risk for mental retardation later in childhood. Psychiatry Clin Neurosci 1997;51:57-65.
Paediatr Perinat Epidemiol 1995;9:455-68. 43. Day NL, Robles N, Richardson G, et al. The effects of prenatal
16. Hack M, Flannery DJ, Schluchter M, et al. Outcomes in young alcohol use on the growth of children at three years of age. Alcohol
adulthood for very low-birth-weight infants. N Engl J Med Clin Exp Res 1991;15:67-71.
2002;346:149-57. 44. Smith T, Pretzel R, Landry K. Infant assessment. In: Simeonsson R,
17. Moldavsky M, Lev D, Lerman-Sagie T. Behavioral phenotypes of Rosenthal S, eds. Psychological and Developmental Assessment.
genetic syndromes: A reference guide for psychiatrists. J Am Acad New York: Guilford Press, 2001:176-204.
Child Adolesc Psychiatry 2001;40:749-61. 45. Battaglia A, Bianchini E, Carey JC. Diagnostic yield of the
18. Coffin GS, Siris E, Wegienka LC. Mental retardation with comprehensive assessment of developmental delay/mental
osteocartilaginous anomalies. Am J Dis Child 1966;112:205. retardation in an Institute of Child Neuropsychiatry. Am J Med
19. Lowry B, Miller JR, Fraser FC. A new dominant gene mental Genet 1999;82:60-6.
retardation syndrome. Am J Dis Child 1971;121:496. 46. Roach ES, Gomez MR, Northrup H. Tuberose sclerosis complex
20. Ellaway C, Christodoulou J. Rett syndrome: Clinical characteristics consensus conference. Revised clinical diagnostic criteria. J Child
and recent genetic advances. Disabil Rehabil 2001;23:98-106. Neurol 1998;13:624-8.
21. Schaefer GB, Bodensteiner JB. Evaluation of the child with 47. Hunter AGW. Outcome of the routine assessment of patients with
idiopathic mental retardation. Pediatr Clin North Am mental retardation in a genetics clinic. Am J Med Genet
1992;39:929-43. 2000;90:60-8.
22. Jacobsen J, King BH, Leventhal BL, Ledbetter DH, Cook EH. 48. Shevell MI, Majnemer A, Rosenbaum P, Abrahamowicz M.
Molecular screening for proximal 15q abnormalities in a mentally Etiologic yield of subspecialists’ evaluation of young children with
retarded population. J Med Genet 1998;35:534-8. global developmental delay. J Pediatr 2000;136:593-8.
23. Leonard H. Noonan syndrome. In: Lennox N, Diggens J, eds. 49. Paffrey JS, Frazer CH. Determining aetiology of developmental delay
Management Guidelines: People with Developmental and in very young children: What if we had a common internationally
Intellectual Disabilities, 1st edn. Melbourne: Therapeutic accepted protocol?! J Pediatr 2000;136:569-70.
Guidelines, 1999:243-6. 50. Curry CJ, Stevenson RE, Aughton D. Evaluation of mental
24. Abel EL, Sokol RJ. Fetal alcohol syndrome is now leading cause of retardation: Recommendations of a Consensus Conference. Am J
mental retardation. Lancet 1986;ii:1222. Med Genet 1997;72:468-77.
25. Abel FL, Sokol RJ. Incidence of fetal alcohol syndrome and 51. Rousseau F, Heitz D, Biancalana V, et al. Direct diagnosis by DNA
economic impact of FAS-related anomalies. Drug Alcohol Depend analysis of the Fragile X syndrome of mental retardation. N Engl
1987;19:51-70. J Med 1991;325:1673-81.
26. Abel FL. An update on incidence of FAS: FAS is not an equal 52. Giangreco CA, Steele MW, Aston CE, Cummins JH, Wenger SL.
opportunity birth defect. Neurotoxicol Teratol 1995;17:437-43. A simplified six-item checklist for screening for fragile X syndrome
27. Stratton K, Howe C, Battaglia FC. Fetal Alcohol Syndrome: in the pediatric population. J Pediatr 1996;129:611-4.
Diagnosis, Epidemiology, Prevention, and Treatment. Washington: 53. Es SV, North KN, McHugh K, et al. MRI findings in children with
Institutes of Medicine, 1996:4,159,163,184. neurofibromatosis type 1: A prospective study. Pediatr Radiol
28. Astley SJ, Clarren SK. Diagnostic Guide for Fetal Alcohol Syndrome 1996;26:478-87.
and Related Conditions: The 4-Digit Diagnostic Code, 2nd edn. 54. Legius E, Descheemaeker MJ, Steyaert J, et al. Neurofibromatosis
Seattle: University of Washington, 1999. type 1 in childhood: Correlation of MRI findings with intelligence.
29. Roach ES, Whittemore H. Clinical Manifestations of Tuberose J Neurol Neurosurg Psychiatry 1995;59:638-40.
Sclerosis. Silver Spring: Tuberose Sclerosis Alliance, 2000. 55. Poplawski NK, Harrison JR, Norton W, Wiltshire E, Fletcher JM.
30. Jones KL. Smith’s Recognizable Patterns of Human Malformation. Urine amino and organic acids analysis in developmental delay or
Philadelphia: WB Saunders, 1997:122. intellectual disability. J Paediatr Child Health 2002;38:475-80.
31. Bryson S, Clark, B, Smith I. First report of a Canadian 56. Knight SJL, Regan R, Nicod A, et al. Subtle chromosomal
epidemiological study of the autistic syndrome. J Child Psychol rearrangements in children with unexplained mental retardation.
Psychiatr 1988;29:433-45. Lancet 1999;354:1676-81.
32. Ritvo E, Freeman, B. National Society for Autistic Children 57. DeVries BBA, White SM, Knight SJL, et al. Clinical studies on
definition of the syndrome of autism. J Autism Childhood submicroscopic subtelomeric rearrangements: A checklist. J Med
Schizophrenia 1978;8:162-7. Genet 2001;38:145-50.
33. Chakrabarti S, Fombonne E. Pervasive developmental disorders in 58. Sloper P, Turner S. Determinants of parental satisfaction with
preschool children. JAMA 2001;285:3093-9. disclosure of disability. Dev Med Child Neurol 1993;35:816-25.

Paediatr Child Health Vol 8 No 6 July/August 2003 355

Lemay.qxd 24/07/2003 11:46 AM Page 356

Lemay et al

59. Diggens J, Lennox N. Informing parents of their child’s disability. In: study. J Mental Defic Res 1991;35:291-307.
Lennox N, Diggens J, eds. People with Developmental and 77. Mates TE. Siblings of autistic children: Their adjustment and
Intellectual Disabilities, 1st edn. Melbourne: Therapeutic Guidelines performance at home and school. J Autism Devel Disord
Limited, 1999:13-6. 1990;20:545-53.
60. Nursey AD, Rohde JR, Farmer RD. Ways of telling new parents 78. McHale SM, Sloan J, Simeonsson RJ. Sibling relationships of
about their child and his or her mental handicap: A comparison of children with autistic, mentally retarded, and nonhandicapped
doctors’ and parents’ views. J Ment Defic Res 1991;35:48-57. brothers and sisters. J Autism Devel Disord 1986;16:399-413.
61. Crow YJ, Tolmie JL. Recurrence risks in mental retardation. J Med 79. Kaminsky LA, Dewey D. Sibling relationships in children with
Genet 1998;35:177-82. autism. J Autism Dev Disord 2001;31:399-410.
62. United Nations. The Standard Rules on the Equalization of 80. Kaminsky LA, Dewey D. Psychosocial adjustment in siblings of
Opportunites for Persons with Disabilities. United Nations children with autism. J Child Psychol Psychiatry 2002;43:225-32.
Department of Public Information. New York: United Nations, 1994. 81. Krauss MW, Seltzer MM, Gordon R. Binding ties: The roles of
63. Cowen PS, Reed DA. Effects of respite care for children with adult siblings of persons with mental retardation. Ment Retard
developmental disabilities: Evaluation of an intervention for at risk 1996;34:83-93.
families. Public Health Nurs 2002;19:272-83. 82. O’Connor W, Davis R. Challenging behaviour. In: Lennox N,
64. Matson JL, Kuhn DE. Identifying feeding problems in mentally Diggens J, eds. People with Developmental and Intellectual
retarded person: Development and reliability of the screening tool of Disabilities, 1st edn. Melbourne: Therapeutic Guidelines Limited,
feeding problems (STEP). Res Dev Disabil 2001;22:165-72. 1999;73-85.
65. Palmer S, Thompson RJ, Linschied TR. Applied behavior analysis in 83. Davis R. Medication and challenging behaviour. In: Lennox N,
the treatment of childhood feeding problems. Dev Med Child Neurol Diggens J, eds. People with Developmental and Intellectual
1975;17:333-9. Disabilities, 1st edn. Melbourne: Therapeutic Guidelines Limited,
66. Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes. 1999:87-99.
New York: Wiley-Liss, 2001. 84. Baumeister AA, Todd ME, Sevin JA. Efficacy and specificity of
67. Phenylketonuria: screening and management. NIH Consens pharmaceutical therapies for behavioral disorders in persons with
Statement 2000;17:1-33. mental retardation. Clin Neuropharmacol 1993;16:271-94.
68. Kelley RI, Hennekam RCM. The Smith-Lemli-Opitz syndrome. 85. Verhoeven WM, Veendrik-Meekes MJ, Jacobs GA, van den Berg YW.
J Med Genet 2000;37:321-35. Citalopram in mentally retarded patients with depression: A long-
69. De Leersnyder H, de Blois M-C, Vekemans M, et al. Smith-Magenis term clinical investigation. Eur Psychiatry 2001;1692:104-8.
syndrome. J Med Genet 2001;38:586-90. 86. Armenteros JL, Lewis J. Citalopram treatment for impulsive
70. Dawson G, Osterling J. Early intervention in autism. In: aggression in children and adolescents: An open pilot study.
Guralnick MJ, ed. The Effectiveness of Early Intervention. J Am Acad Child Adolesc Psychiatry 2002;41:522-9.
Baltimore: Paul H Brookes, 1997:307-26. 87. Gadow KD. Prevalence and efficacy of stimulant drugs use with
71. Strutton D. The paediatric clinic: Disability and the family. mentally retarded children and youth. Psychopharmacol Bull
Dev Med Child Neurol 2000;42:75. 1985;21:291-303.
72. Harris SL. Treatment of family problems in autism. In: Schopler E, 88. Weber P, Lutschg J. Methylphenidate treatment. Pediatr Neurol
Mesibov GB, eds. Behavioral Issues in Autism. New York: Pleum 2002;26:261-6.
Press, 1994:161-75. 89. Hagerman RJ, Murphy MA, Wittenberger MD. A controlled trial of
73. Olsson MB, Hwang CP. Depression in mothers and fathers of stimulant medication in children with fragile X syndrome. Am J Med
children with intellectual disability. J Intellect Disabil Res Genet 1988;30:377-92.
2001;45:535-43. 90. Handen BL, Feldman H, Gosling A, Breaux AM, McAuliffe S.
74. Roach MA, Orsmond GI, Barratt MS. Mothers and fathers of Adverse effects of methylphenidate among mentally retarded
children with Down syndrome: Parental stress and involvement in children with ADHD. J Am Acad Child Adolesc Psychiatry
childcare. Am J Ment Retard 1999;104:422-36. 1991;30:241-5.
75. Wolf LC, Noh S, Fisman SN, Speechley M. Brief report: 91. Seltzer MM, Krauss MW. Quality of life of adults with mental
Psychological effects of parenting stress on parents of autistic retardation/developmental disabilities who live with family. MRDD
children. J Autism Devel Disord 1989;19:157-66. Res Rev 2001;7:105-14.
76. Bagenholm A, Gillberg C. Psychosocial effects on siblings of 92. Cocks E. An Introduction to Intellectual Disability in Australia.
children with autism and mental retardation: A population based Fyshwick: Australian Institute on Intellectual Disability, 1998:52.

356 Paediatr Child Health Vol 8 No 6 July/August 2003