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ORIGINAL ARTICLE

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

Paediatr Child Health Vol 8 No 6 July/August 2003 ©2003 Pulsus Group Inc. All rights reserved 345
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Lemay et al
when applying this new definition of MR. First, a valid assess-
ment should take into account cultural and linguistic differ-
ences in communication and behavioural factors. Second, any
assessment should focus on an individual’s performance during
normal daily routines and changing circumstances, and not on
the person’s best performance.
Though far from perfect, intellectual functioning is still best
represented by intelligence quotient (IQ) scores obtained from
appropriate assessment instruments. Performance of two SDs
below the mean of a corresponding group of people (for exam-
ple, in age, culture and context) on an intelligence test is usu-
ally required to make the diagnosis. This correlates to a score of
less than 68 on the Stanford-Binet, fourth edition (SB: IV) or
below 70 on one of the Wechsler tests (ie, Wechsler Preschool
and Primary Scale of Intelligence, Revised [WPPSI-R];
Wechsler Intelligence Scale for Children, third edition,
Wechsler Adult Intelligence Scale, third edition). It should be
noted, however, that both the SB: IV and WPPSI-R are limit-
ed in terms of their usefulness in establishing a diagnosis of MR
in children three years of age and younger (5). This is because
at the earliest year levels of the test, the floor (ie, the lowest
possible score that can be obtained) results in a higher IQ score
than at the later year levels. For example, on the WPPSI-R,
the lowest possible Performance IQ score at three years is 66,
and the lowest possible Verbal IQ score is 71, whereas at age
five years the lowest possible Performance IQ is 47 and the
lowest possible Verbal IQ is 48. As a result, in young, low func-
tioning children, decreases in IQ on standardized measures
from three to five years of age may not indicate a serious decre-
ment in functioning. Rather, they may be a reflection of how
the test was constructed. Therefore, if a young child fails most
or all of the items on the SB: IV or the WPPSI-R, further
assessment of the child’s functional abilities is warranted.
Classification of individuals with MR has been divided into
‘mild’ (IQ 50 to 55, to 70 to 75), ‘moderate’ (IQ 35 to 40, to 50
to 55), ‘severe’ (IQ 20 to 25, to 35 to 40) and ‘profound’ (IQ
below 20 or 25) (6). When there is significant scatter in the
subtest scores, the profile of strengths and weaknesses, rather
than the mathematically derived IQ may be a more accurate
reflection of the person’s cognitive abilities.
In this review, we will be presenting information on chil-
dren with mild MR versus children with severe MR. This dif-
ferentiation of MR into mild and severe categories may seem
to be somewhat of an artificial separation. However, most of
the published literature on the epidemiology of MR divides the
population of individuals with MR into these two groups. In
the newest AAMR definition, the classification of severity of
MR has been replaced by the concept of intensity of support
required. Such a classification is thought to be more function-
al and oriented to service delivery and outcomes (1).
In the following sections of this article, select studies drawn
from the clinical and research literature that addressed MR
and its diagnosis are presented. Most of the studies referenced
have been published during the past decade. Further, none of
these studies relating to the investigation of MR were under-
taken in a primary care setting.
EPIDEMIOLOGY
A review of 33 studies conducted after 1963, predominantly
from western industrialized countries, showed prevalence rates
for mild MR ranged from 3.2 to 79.3 per 1000 and for severe
MR from 2.8 to 7.3 per 1000 (7). While this variation in esti-
346
mates of prevalence across countries and regions may represent
some true differences, it is also largely attributable to the vari-
ations in the classification of MR and methodologies used by
different studies (1). The most recent literature estimates an
incidence of mild MR at 10.6 per 1000 and severe MR at 1.4
per 1000 (1). This is consistent with a recent study using a
national survey of 46,000 households in the United States that
found the prevalence of MR in the noninstitutionalized popu-
lation to be 7.8 people per 1000 (8). MR has been found to
occur more frequently in boys with a male to female ratio of 1.6
to one supporting the notion that an X-linked pattern of
inheritance underlies a significant proportion of cases of MR
(9,10). Mild MR tends to be familial or polygenic compared
with severe MR, which tends to be sporadic. Severe MR has no
socioeconomic, racial or geographic predilection.
ETIOLOGICAL CONSIDERATIONS
Etiologies of MR are diverse and include many different influ-
ences. A survey of physicians referring patients with MR to
subspecialists has shown that a high priority is given to deter-
mining the cause of MR (11). Determining such etiology can
be useful in counselling families about prognosis, recurrence
risks and preferred modes of available therapy.
Malnutrition is probably the most common cause of mild
MR worldwide, in conjunction with sociocultural deprivation
and other problems related to poverty (12). In developed
countries, the underlying causes of MR are various and hetero-
geneous and can remain unknown in up to 66% of cases (10).
Gillerot et al (13) identified a subgroup of the population with
MR (66% of a sample of 500 children affected by mild MR)
that was thought to have ‘sociocultural handicap’ due to lack
of stimulation in childhood. This suggests that in a significant
proportion of children, mild MR is associated with growing up
in a deprived environment.
Stromme and Hagberg (14) studied 178 children with MR
derived from a population-based series of 30,000 children born
between 1980 and 1985 in Norway. Forty-four per cent of these
children had severe MR (IQ less than 50) and 56% had mild
MR (IQ 50 to 70) as presented in Table 1. Monogenic and
chromosomal disorders were more frequent in the severe MR
group, whereas, less specific deficits were associated with mild
MR. Prenatal factors were implicated more often than perina-
tal or postnatal factors combined.
Noteworthy, a study conducted in Atlanta, Georgia, of chil-
dren born in the mid-1970s revealed that low birth weight was
associated with a two- to fourfold increased risk for MR (15).
Despite substantial changes in neonatal management in the
interim, the smallest infants are still at increased risk for devel-
oping mild and severe MR. Finally, a recent longitudinal fol-
low-up study of 242 very low birth weight infants (those
weighing less than 1500 g) born between 1977 and 1979 found
that they had lower mean IQs than controls. Interestingly,
approximately 7% to 8% of these very low birth weight infants
were found to be within the MR range on IQ testing (16).
SYNDROMES ASSOCIATED WITH MR
There are a number of syndromes that have a particular genet-
ic etiology that typically have associated morphological and/or
behavioural phenotypes, and are associated with MR (Table 2).
Down syndrome is the most common with an incidence of one
in 650 to 1000 live births (17). Some conditions occur pre-
dominantly in boys (eg, Fragile X and Coffin Lowry) (18,19).
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TABLE 1
Classification of etiology of 178 children with
mental retardation (MR)
Severe (%) Mild (%) Total (%)
Cause (n=79) (n=99) (n=178)
Prenatal 70 51
Chromosomal 22 4 12
Specific syndromes 13 12
Neurodegenerative 8 0
Familial MR 6 9
Acquired 4 5
Unspecified syndromes 9 13
Brain anomaly 9 7
Perinatal 4 5
Postnatal 5 1
Idiopathic* 22 43
*Including cerebral palsy and pervasive developmental disorder. Data from
reference 14
In a Norwegian population-based series, X-linked recessive
conditions occurred in six of 63 (9.5%) children with a genet-
ic cause for their MR (14). Other conditions, such as Rett syn-
drome, occur predominantly in girls (20). Fragile X syndrome
is the most frequent form of inherited MR accounting for 1%
to 6% of MR in boys (21). Angelman syndrome was found to
account for 1.4% of the moderately to profoundly mentally
retarded subjects screened for this syndrome in one study (22).
About one-third of individuals with Noonan syndrome have a
mild intellectual disability with an average IQ 10 points below
that of unaffected family members (23).
Some studies suggest that fetal alcohol syndrome (FAS) is
the most common cause of MR among children in the United
States (24-26). The literature on the prevalence of FAS is far
from consistent. The occurrence of FAS can range from 0.6 to
three per 1000 live births in most communities, with some
communities (eg, inner city regions and people of African
American or Native American background) having an
increased prevalence (26,27). People with FAS can have IQs
from well within the normal range to the severely mentally
retarded range. On average, individuals with the full syndrome
have mild MR with IQ scores in the 60s (27). Physical anom-
alies can be slight or quite striking. Table 3 presents the clini-
cal features of FAS (27). Learning difficulties, poor attention,
hyperactivity and adaptive functioning problems that grow
more significant as the child matures have also been described
with FAS.
It is well recognized that children who have been exposed
to alcohol antenatally may be at risk for the primary and sec-
ondary disabilities associated with antenatal alcohol exposure
even if the physical phenotype is normal. For this and other
reasons, different groups have attempted to create accurate,
reproducible tools for diagnosing FAS and related conditions.
One such approach is the University of Washington 4-digit
diagnostic code (28). This approach attempts to score the
magnitude of expression of four key features (growth deficien-
cy, facial phenotype, brain dysfunction and gestational alcohol
exposure) in a reproducible manner. The end result is 22 possi-
ble unique clinical diagnoses (ranging from FAS, alcohol
exposed to no cognitive, behavioural or sentinel physical find-
ings detected, no alcohol exposure). These specific diagnoses
can then be better used for educational planning, advocacy,
reporting and research.
Paediatr Child Health Vol 8 No 6 July/August 2003
A rational approach to the child with MR
DISORDERS ASSOCIATED WITH MR
MR is also associated with a number of disorders. In this con-
text, ‘disorder’ refers to a condition associated with an abnor-
mality of function. Up to 30% of cases of MR are associated
59
with epilepsy and/or cerebral palsy. Epilepsy has consistently
been shown to be the single most common disorder associated
12
with MR (in 15% to 30% of cases) (9). Cerebral palsy is a stat-
3
ic disorder of motor function that occurs as a result of injury or
8
abnormal morphogenesis of the motor region of the immature
4.5
developing brain. It is found in approximately 20% to 30% of
11
patients with MR (9). Sensory impairments (visual and hear-
8
ing), psychiatric disorders and language deficits are also com-
mon among individuals with MR. Further, the co-occurrence
4.5
of these disorders tends to increase with the severity of
3
retardation.
34 Central nervous system malformations are present in some
patients with MR (21). This can include neural tube defects
and hydrocephalus. In a study of 60 patients with MR, 10
(16.7%) had cerebral dysgenesis such as cerebellar hypoplasia,
agenesis and/or hypoplasia of the corpus callosum, and hetero-
topia (11). Neuronal migrational disorders, such as
lissencephaly, and defects of cortical organization, such as
polymicrogyria and schizencephaly, often present with MR
along with other features, such as seizures, spasticity and
microcephaly.
Other neurological conditions to be considered include neu-
romuscular disorders and neurocutaneous syndromes, such as
tuberous sclerosis (TS) and neurofibromatosis type 1 (NF-1).
One-third of patients with Duchenne muscular dystrophy can
have mild to moderate MR (12). Approximately 45% to 60%
of individuals with TS have mental disabilities (29). Seizures
occur in 60% to 90% of individuals with TS. The degree of
intellectual dysfunction ranges from very mild to severe.
Individuals whose seizures continue after treatment and those
with a large number of cortical tubers have a much greater
likelihood of mental disability. MR occurs in 2% to 5% of
patients with NF (30).
Autism is a neurobehavioural syndrome characterized by
pervasive and severe deficits in verbal and nonverbal commu-
nication and social skills, and includes the presence of abnor-
mal repetitive and stereotyped behaviours. It has been widely
documented that the majority of individuals with autism also
have MR. Bryson et al (31) reported that approximately 75% of
their Canadian sample had IQs below 50. Ritvo and Freeman
(32) found that 60% of individuals with autism had IQs below
50, 20% had IQs in the range 50 to 70 and only 20% had meas-
ured IQs above 70. There is a higher incidence of autism in
boys, with one study (33) of 97 children finding 79.4% to be
boys. It has also been established that, on average, the mean IQ
scores of groups of girls with autism are slightly lower than for
groups of boys with autism (34,35). Further, in the very severe
and profound ranges of retardation, the sex ratio of males to
females has been found to shift from 4.1 to 2.5, to 3.0 to 1. This
suggests that there is an excess of girls with autism in the severe
range of MR (34). Bailey et al (36) observed, however, that
autistic disorder is also noted for some strengths in cognitive
skills, or ‘islets of ability’, as well as a specific pattern of deficits.
Visual-spatial abilities are usually better in autistic individuals,
often resulting in a higher Performance IQ score than Verbal
IQ score and, hence, an uneven cognitive profile.
While certain behavioural and cognitive features may be
over-represented in all patients with MR, it is important to
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Lemay et al
TABLE 2
Common syndromes associated with mental retardation (MR)
Inheritance
and genotype
Down syndrome Increased maternal age or parental
translocation increases risk of recurrence
Trisomy 21 (95%)
Translocation (5%)
Mosaicism (2%–4%)
Fragile X syndrome X-linked
50% of girls with full mutation have MR
Increase in the number of CGG repeats (>200)
present in one exon of the FMR-1 gene
Velocardiofacial/ A microdeletion at chromosome 22q11
22q11 microdeletion The minority (~10%) are inherited
syndromes and behave as an autosomal dominant
Affected patients are at 50% risk for having
affected offspring
Williams syndrome A microdeletion of 7q11.23
The minority are inherited, however
the deletion behaves as an autosomal dominant
Affected patients are at 50% risk for having
affected offspring
Noonan syndrome Autosomal dominant inheritance, although
25%–75% of cases are new mutations
At least some cases caused by mutations
in PTPN11 on chromosome 12
Clinical genetic testing not yet available
Rett syndrome Most cases de novo mutations
Familial cases occasionally described
Gene encoding X-linked methyl-CpG-
binding protein 2 (MECP2)
Located at Xq28
Angelman syndrome Usually de novo with low recurrence risk
Associated with a variety of molecular
mechanisms resulting in an absent or
nonfunctioning maternal allele on chromosome
15q11-q13
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
Phenotype
Facial features: upslanting palperbal
fissure, epicanthal folds, brachycephaly, and
Brushfield spots
Fifth finger: hypoplasia of midphalanx with clinodactlyly
Simian crease
Hypotonia
Cardiac anomalies
Facial features: prominent ears, long narrow
face and prognathism
Macroorchidism
Hyperextensible finger joints
Velvety skin
Extremely variable
Facial features: elongated face, short palpebral
fissures, micrognathia
Cleft palate or velopalatine insufficiency
Conotruncal heart defect
DiGeorge sequence
Facial features: Periorbital fullness, stellate iris
pattern, long philtrum, full lips and wide mouth
Cardiac anomalies (usually supravalvular
aortic stenosis)
Hypercalcemia (not mandatory, transient)
Short stature
Facial features: hypertelorism, ptosis,
downslanting palpebral fissures
Low set posteriorly rotated ears
Micrognathia
Curly woolly hair
Webbed neck
Valvular pulmonary stensois
Hypotonia
Short stature
Normal development followed by reduction or loss
of skills (onset 6 months to 3 years) and
cessation of head growth
Loss of purposeful hand movements and speech
Spasticity/ataxia
Peripheral vasomotor disturbance
Facial features: large mandible,
open-mouthed expression
Hypotonia
Jerky arm movements
Cheerful and smiling
Paediatr Child Health Vol 8 No 6 July/August 2003
Behaviour
Language delay
Hyperactivity, aggression and impulsivity
Autistic features rare
Early onset Alzheimer disease
Autistic like
Attention deficit disorder
Emotional disturbance
Learning disability
Seizures
Tactile sensitivity
Developmental delay
Speech and/or language impairment
Mild MR
Psychiatric manifestations, including
schizophrenia in adulthood
Developmental delay
Mild MR, but specific profile with higher
verbal scores and lower
visuospatial scores
‘Over friendly’ personality
Attention deficit disorder
Generalized anxiety
Learning disability – visual-spatial
problems
Language delay
Clumsy/stubborn/irritable
Psychiatric disturbances
Hand stereotypes
Breathing dysfunction (eg, periodic apnea
when awake and aerophagia)
Severe language impairment
Language severely impaired or absent
Excessive laughter
Autistic features and aggression
may be seen
Repetitive/stereotyped behaviour
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know that specific behavioural patterns may be associated with
certain genetic syndromes. Recognizing these so-called ‘behav-
ioural phenotypes’ may lead to the correct diagnosis of the
underlying genetic syndrome, allowing for accurate genetic
counselling and anticipatory care. Examples include: the over-
friendliness and anxiety of children with Williams syndrome
(37); the self-injurious or self-stimulatory behaviour and severe
sleep disturbances of children with Smith-Magenis syndrome
(38); the obsessions and compulsions of children with Prader-
Willi syndrome (39); or the social anxiety, sensory defensive-
ness and hyperactivity of boys, and some girls, with Fragile X
syndrome (40). Specific molecular or molecular cytogenetic
tests exist for these and many other genetic syndromes associ-
ated with recognizable behavioural phenotypes.
In addition to the above disorders, studies have reported
significant psychiatric morbidity in individuals with MR.
Hoare et al (41) found that 38% of 143 children with severe
disability had significant psychiatric morbidity. Psychiatric dis-
orders such as depression (including bipolar affective disorder),
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-
nesis, hypokinesis, stereotyped behaviours, self-injurious
behaviour and licking. Further, these behaviours were closely
associated with cognitive development level (42).
CLINICAL ASPECTS OF THE DIAGNOSIS
MR most often presents during infancy or preschool years as
developmental delay. Other presentations may include con-
genital hypotonia, seizures, feeding problems, or other symp-
toms associated with CNS malformations. Milder forms of MR
may not be picked up until the school years. Impairments in
adaptive functioning, rather than low IQ, are the usual pre-
senting features. Lack of communication skills may predispose
to disruptive and aggressive behaviours. Therefore, careful
attention to the rate of development in separate developmen-
tal streams in children is very important.
The history, including pre-, peri- and postnatal features,
could assist in determining an etiology. The use of prescribed
medications and other drugs during pregnancy should be close-
ly reviewed. Consumption of an average daily alcohol volume
of one or more drinks during pregnancy has been associated
with an increased risk of FAS and related disorders (43). A
rash or fever during the pregnancy should raise the possibility
of a congenital infection. Recurrent unexplained illness,
seizures or loss of psychomotor skills raise the possibility of a
metabolic disorder. Childhood human immunodeficiency
virus-related encephalopathy may also present with unex-
plained illnesses and global impairment of cognitive and social
functioning (44). Gathering a careful family history is essential
in the etiological search of MR. A three-generation pedigree,
paying attention to unexplained deaths in infancy and/or
childhood, recurrent fetal losses, learning problems, psychi-
atric disorders, nonspecific developmental problems, autism
and MR in relatives as well as inquiring about consanguinity, is
mandatory.
When MR is suspected, the child should always have a
complete physical examination. A thorough physical examina-
tion helped to determine a diagnosis in 22 of 120 patients
(18.3%) in one study (45). Such an examination should incor-
porate a review of growth parameters (including head circum-
Paediatr Child Health Vol 8 No 6 July/August 2003
A rational approach to the child with MR
TABLE 3
Clinical features of fetal alcohol syndrome (FAS)
Confirmed maternal alcohol exposure – it is still possible to make the
diagnosis without confirmation of this
Evidence of characteristic pattern of facial anomalies that includes features
such as short palpebral fissures and abnormalities in the premaxillary
zone (flat upper lip, flattened philtrum and flat mid-face). These features
can be partial
Evidence of growth retardation in at least one of the following (low birth
weight for gestational age, decelerating weight over time not due to
nutrition, disproportional low weight to height)
Evidence of central nervous system neurodevelopmental abnormalities as
in at least one of the following:
– Decreased cranial size at birth
– Structural brain abnormalities (microcephaly, partial or complete
agenesis of the corpus callosum, cerebella hypoplasia)
– Neurological hard or soft signs such as impaired fine motor skills,
neurosensory hearing loss, poor tandem gait, poor eye-hand
coordination
ference) and the skin (looking at neurocutaneous stigmata,
abnormal pigmentation and dermatoglyphics) (29,46).
Dysmorphic features looking especially at the face, hands and
feet and genitalia can be suggestive of aneuploidy. This is par-
ticularly the case if there is reduced family resemblance. The
presence of three minor anomalies and/or unusual appearance
helped to make a diagnosis of MR in one Canadian series (47).
Finally, a detailed neurological examination should always be
performed.
Clinical photographs may be useful to document and follow
findings. A behavioural phenotype may be apparent after
observing cognitive, language and social skills during the con-
sultation. Audiological assessment and an ophthalmological
review can supplement the initial clinical examination.
Information from other sources (eg, past health records,
teacher reports) may also be of help.
Obviously, the need for referral depends on the comfort and
competency of the primary practitioner to take the history out-
lined above and elicit the appropriate clinical findings. Access
to and familiarity with the investigations, which are outlined
below, will also play a role in the decision of whether to refer.
A number of recent reports have highlighted the beneficial
role played by subspecialist involvement (be it by a neurolo-
gist, geneticist or developmental paediatrician) in the diagno-
sis and management of MR (47,48).
INVESTIGATIONS
There is no universally accepted approach to the etiological
work-up of developmental delay and MR (49). A consensus
conference using available literature and expert opinion spon-
sored by the American College of Medical Genetics in 1995
attempted to identify some consensus recommendations and is
summarized in Table 4 (50). Selective laboratory testing in
most patients should include a karyotype at the 500-band lev-
el, especially if the diagnosis is not apparent. Chromosomal
abnormalities are one of the most common causes of MR (10).
The severity of MR and presence of congenital anomalies has
been thought to increase the yield of abnormality (50).
Fluorescent in situ hybridization (FISH) allows the detec-
tion of gain and/or loss of genetic material from 0.1 megabases.
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TABLE 4
Key features of management of mental retardation (MR)
Key aim is to improve or maximize quality of life
Establish an etiology (helps to provide information to parents about
recurrence and prognosis). Rarely will the condition be curable or
treatable
Anticipate future medical problems. For example see Management of
Genetic Syndromes (65)
Intervene early (with appropriate allied health referrals, educational, financial
and respite services)
Review the patient at regular intervals (annually until school age and a
re-evaluation at puberty) if possible. Ensure a smooth transition to adult
medical services
Explore long term placement options at an early stage
Modify behaviours that may harm the individual, place stress on primary
care givers and minimize the chances of involvement in a day program
Adopt a family-focused approach looking at the needs of parents and
siblings (particularly in the context that strong sibling relationships
increase the chance of an individual with MR of not being
institutionalized)
Awareness of the role of prevention (especially in relation to fetal alcohol
syndrome)
Act as an advocate for those with MR
FISH probes exist for such disorders as Williams syndrome,
Velocardiofacial syndrome, Smith-Magenis syndrome and
some cases of Prader-Willi and Angelman syndromes. Such
microdeletion syndromes represent cytogenetic alterations not
observed in a routine karyotype. These probes should be con-
sidered when clinically indicated (Table 2). It is important to
remember that if FISH testing is ordered, you must specify
which disorder is under consideration. Direct diagnosis by
DNA analysis for Fragile X was described by Rousseau et al
(51). It should be considered in both boys and girls with unex-
plained MR, especially in the presence of a positive family his-
tory, or a suggestive physical or psychiatric phenotype (50). It
has been argued that screening for Fragile X in all patients with
idiopathic MR would result in the detection in 0.6% to 14% of
the cases, even if there were no features to suggest the diagno-
sis (21). There is debate, however, about whether Fragile X
screening can be refined with screening checklists (47,52).
Neuroimaging should be considered in patients without a
known diagnosis especially in the presence of focal neurologi-
cal abnormalities, cranial contour abnormalities, macro-
cephaly, or microcephaly (50). Shevell et al (48) found that
imaging studies performed for a specific indication (eg, micro-
cephaly) were more than three times as likely to result in an
etiological yield than when done on a screening basis. The
magnetic resonance imaging (MRI) scan is superior to the
computed tomography (CT) scan because it provides more
accurate images of the structures of the posterior fossa and of
maturational differences in the brain including myelination. A
higher rate of abnormality detected by MRI compared with CT
has been observed in the literature (47). There is also lack of
exposure to ionizing radiation. The CT scan is useful, howev-
er, for conditions associated with intracranial calcifications
and suspected craniosynostosis. Neuroimaging is not required
350
TABLE 5
Features to suggest a metabolic disorder
History Consanguinity between parents*
Family history of apparent life-threatening events or SIDS*
Growth failure*
Recurrent unexplained illness (eg, vomiting)*
Chronic gastrointestinal symptoms
Recurrent lethargy or coma*
Seizures*
Ataxia
Loss of skills
Unexplained deafness
Examination Hypotonia* Arachnodactyly
Microcephaly* Hepatosplenomegaly*
Coarse appearance* Skeletal abnormalities
Eye abnormalities* Skin or hair abnormalities*
Abnormal sexual differentiation Unusual odour
Investigations CNS malformations (may be Hypoglycemia*
picked up on antenatal Low cholesterol
ultrasound) Cardiomyopathy*
Metabolic or lactic acidosis*
Hyperuricemia
Hyperammonemia*
*Denotes conditions that may be detected in the neonatal period and during
infancy. CNS Central nervous system; SIDS Sudden infant death syndrome
in known syndromes unless there are additional neurological
signs not consistent with the diagnosis.
Careful analysis of brain neuroimaging, combined with a
detailed history and physical examination, enables clinicians
to establish etiological links and insights into the develop-
mental brain problems associated with MR. Recent investiga-
tions have reported that high intensity lesions on
T2-weighted images and hyperintense lesions on T1-weighted
images could be disease specific abnormalities for NF-1 (53).
Although the significance of such lesions and their relation-
ship to clinical features such as MR has not been established,
this is an example of how imaging techniques are shedding
new insights into conditions associated with MR (54). It
remains controversial, however, whether neuroimaging is
indicated in all cases of NF-1.
It has been argued that routine metabolic screening should
be abandoned because of its low yield in the work-up of MR
(48). Endocrine and metabolic causes of MR accounted for
only 0.8% of causes of MR in a survey of children born in
California (10). This figure is in agreement with a recent
Australian study that showed the diagnostic yield of urine
amino and organic acid screening tests to be 1.1% for patients
with ‘developmental delay’ or ‘intellectual disability’ (55). The
authors of this study (55) argue that despite the low diagnostic
yield, these investigations should still be strongly considered.
Specific therapies were available for 69% of the diagnoses and
87.5% had known Mendelian or mitochondrial inheritance. It
is argued that the expense of these investigations is outweighed
by the early diagnosis of inborn errors of metabolism. Such
benefits include early therapeutic intervention, assisting cou-
ples in making reproductive decisions and the potential
reduced costs to society with respect to the long term super-
vised care that affected individuals may require as adults.
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Lemay.qxd 24/07/2003 11:46 AM Page 351
Certainly, if the clinical picture suggests such a cause (eg,
growth failure, hypoglycemia or acidosis), then metabolic stud-
ies are mandatory (Table 5). Such a screen would include
screening the urine (amino acids, organic acids, complex and
simple sugars and mucopolysaccharides) and blood (plasma
amino acids, serum lactate and serum ammonia).
In addition, other metabolic investigations that may be
considered depending on the scenario could include very long
chain fatty acids, serum 7-dehydrocholesterol and total choles-
terol, thyroid function studies, lactate to pyruvate ratios and
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
preschool years presenting with developmental delay, particu-
larly, if there are concerns about gross motor skills given the
association of MR with some forms of muscular dystrophy such
as Duchenne. Congenital infection accounted for 0.4% of the
patients with MR in the study by Croen et al (10). Serology,
however, is not useful in diagnosing such infections beyond the
newborn period.
Battaglia et al (45) found a relatively high diagnostic yield
(8.3%) in the group of patients they assessed using electroen-
cephalogram (EEG). The use of EEG should be considered in
any patient with seizures and/or epilepsy. Seizures often co-
exist with Rett and Angelman syndromes. Table 6 summarizes
the investigations outlined above and is in keeping with
“Evaluation of mental retardation: Recommendations of a
Consensus Conference” (50).
Despite all of the tests at our disposal, the majority of cases of
MR, even when there is a presumed ‘genetic’ origin, remain
unexplained. For this reason, new technologies are being devel-
oped. At present, one exciting new test modality is the ability to
screen for subtelomeric chromosome deletions. The telomeres
are the gene-rich ends of the chromosomes. It is now recognized
that a significant proportion (perhaps 7% to 10%) of unex-
plained MR is actually due to small deletions or rearrangements
of the chromosomes at the telomeres that cannot be seen by rou-
tine cytogenetics. The results of such tests are of clinical impor-
tance because occasionally the parents may be carriers of
‘cryptic’ subtelomeric rearrangements and would be at risk for
further affected offspring (56). While these tests are not yet
widely available, these and other tests should become more
accessible on a clinical basis within the next few years. It
remains to be seen whether specific checklists may help triage
which patients should be studied using these techniques (57).
It should be noted that most of the studies cited were per-
formed by subspecialists (eg, neurologists, developmental pae-
diatricians or geneticists). Therefore, general paediatricians
may be unlikely to undertake such investigations. However, it
is useful for them to be aware of the above tests and procedures
so that they can refer patients who may be appropriate. While
some studies of investigations of MR in children have been ret-
rospective chart reviews (45,47), there have also been some
prospective studies conducted (48). All these studies have
confirmed that the most important aspect of any evaluation
remains a thorough history and physical examination (49). It
can be argued that laboratory investigations should be used in
a ‘directed fashion’ rather than as ‘screening’ tools (49). This
was the case in the study by Shevell et al (48) where physicians
did not follow a specified template, but rather used their own
discretion when ordering tests. However, this makes it difficult
Paediatr Child Health Vol 8 No 6 July/August 2003
A rational approach to the child with MR
TABLE 6
Investigations recommended in work-up of mental
retardation
Highly suggested Dependant on clinical findings
Banded karyotype Cerebral imaging
Molecular study for Fragile X Metabolic studies including thyroid function
studies
Electroencephalogram
Disease-specific molecular or molecular
cytogenetic studies
to generalize the yield of such tests to all populations (49). It
has been suggested that a multisite, protocol-driven study
would be of value in obtaining a degree of uniformity in inves-
tigations carried out and hence allow some estimation of the
yield of the investigations outlined above.
MANAGEMENT
The aims of paediatric management are to provide support to
people with MR and their families and to assist them in creat-
ing personally satisfying lives (Table 4). It is vital that the prac-
titioner not fail to diagnose specific syndromes or treatable
genetic conditions. Patients with MR, along with their fami-
lies, benefit from a directed clinical and laboratory evaluation
aimed at establishing etiology, as outlined in the preceding
paragraphs. This in turn provides a focus for education about
the diagnosis and counselling about prognosis. Paediatricians
must be aware, however, that most causes of MR are not treat-
able directly. Nevertheless, accurate diagnosis may aid in
genetic counselling, and alleviate parental guilt. More impor-
tantly, even if an etiological diagnosis cannot be made, the
provision of sound advice and emotional support from both the
primary physician and sometimes from other parents (through
support groups) can assist in planning for future needs.
While few details of the consultation in which a diagnosis
(or lack thereof) will be remembered in later years, the way in
which this information is conveyed may well be. In a study of
103 parents of children with severe physical disability, only
37% of parents were satisfied with how the disclosure was
made (58). Key components leading to increased satisfaction
in this study included a sympathetic and approachable manner,
combined with direct and clear communication. A range of
emotions and reactions from the parents is possible, ranging
from wanting to be left alone to having questions answered
immediately (59). Research has demonstrated that parents
wish to be given as much information as early as possible and
to be treated as the people primarily responsible for their child
(60). Physicians can learn directly from parents and people
with MR about the best way to communicate a diagnosis of
MR. A summary of key components involved in informing
parents about a diagnosis of MR are presented in Table 7.
Recurrence risks, where appropriate, and guidelines for
management, such as referral to appropriate services for thera-
py, education, financial and other support services should be
addressed (50). Provision of accurate recurrence risk coun-
selling depends on identifying the correct underlying diagno-
sis. If a specific diagnosis is reached, then the possibility for
carrier testing or prenatal diagnosis may exist. In addition, the
child with MR should personally receive recurrence risk coun-
selling in adolescence or adulthood when appropriate. If a spe-
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Lemay et al
TABLE 7
Key components in conveying a diagnosis of mental
retardation (MR)
Attitude Acknowledge that the child is valued and the parents are
respected. It is important to handle the child in a positive and
caring manner. It is probably best to have the child present.
Confidentiality should be maintained
Location Choose a private room to talk without interruptions. Inclusion of
unnecessary persons or students should be avoided
Personnel If possible, experienced staff should convey the news. Parents
could be seen by two health workers – one to provide factual
information (eg, paediatrician) and one who is available to work
with parents toward adaptation or understanding (nurse or
social worker). It is best (if possible) to have both parents
present
Language Interpreter should be present if English is not the first language
Content Present information in a direct, sympathetic and understandable
manner. Be balanced in how the disability is discussed and its
implications for the future. Clarify the plan for the immediate
future. It may be necessary to repeat information on a number
of occasions (a follow-up consultation is advised)
Questions Allow time for questions; any information that cannot be
immediately provided should be openly acknowledged and
clarified as soon as possible
Support Provide verbal and written information about support and
interest groups
cific diagnosis cannot be identified, then it is appropriate to
quote ‘empiric’ recurrence risk figures, which vary depending
on the scenario (61).
It is important that the practitioner has an intricate knowl-
edge of community resources for the family. Services will vary
from province to province and may involve both government
and subsidized agencies. Services for children of different ages
may also be provided by different government departments.
For the family of a child with MR, this array of services may be
confusing. Obviously each family will have their own particu-
lar needs for their child but the United Nations has listed a
number of services that governments should provide (62). This
includes provisions discussed elsewhere including information,
counselling and consumer or parent support groups. Other
important services include financial assistance, equipment (at
low cost), recreation or community access facilitation and,
ultimately, vocational training. Respite care (often with other
families) has been found to be an important resource for fami-
lies of children with MR, particularly if the primary caregiver
has some underlying distress (41). Further, it has been found to
reduce the incidence of child maltreatment (63).
The medical practitioner also plays a crucial role in manag-
ing medical problems, such as those related to nutrition,
epilepsy and spasticity. The incidence of feeding problems in
those with MR has been estimated to be 33% in the literature
(64,65). Anticipatory guidance on expected medical compli-
cations is also of benefit to the patient and family. There are
now some excellent resources to help physicians and other
healthcare professionals manage their patients who present
with common syndromes. One such example is the textbook
Management of Genetic Syndromes (66).
The number of medical conditions associated with MR that
are completely treatable by medical means is small. The proto-
352
typical example is phenylketonuria (PKU). The profound MR
and autistic features associated with untreated PKU can now
be completely prevented by dietary manipulation. It is for this
reason that newborn screening programs for PKU exist in vir-
tually every jurisdiction. It is now recognized that treatment
for PKU should continue life-long to prevent subtle effects on
IQ and performance. It is also well known that women with a
known history of PKU, or with a previously undiagnosed case
of hyperphenylalaninemia, are at significant risk for having
children with MR. For this reason, strict management is need-
ed during pregnancy. In addition, consideration should be giv-
en to checking a mother’s plasma amino acids if she has
children with MR and microcephaly with or without congeni-
tal heart disease (67). In other disorders associated with MR,
specific therapies may help at least modify behavioural symp-
toms. The autosomal recessive disorder Smith-Lemli-Opitz
(SLO) syndrome is caused by an inborn error of cholesterol
metabolism. Replacement therapy with high doses of cholesterol
is associated with improved growth in patients with SLO. Many
of the behavioural manifestations of SLO may also improve with
cholesterol therapy, however, the MR cannot be reversed (68).
Some of the severe behavioural and sleep disturbances associat-
ed with Smith-Magenis syndrome respond to treatment with
melatonin or beta-adrenergic antagonists (69).
Identification of developmental disabilities may enable
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
analyses for children with autism, early speech and language
therapy for children with significant language delays). During
the school years, integrated programs with appropriate support
can allow ongoing development. In the case of FAS, it is
important to recognize that although children are affected by
prenatal exposure to alcohol, a great deal of neurological
development occurs postnatally and if child care, nutrition and
the environment are adequate it is probable that children can
make considerable progress. Adequate education and training,
together with protection from negative child rearing environ-
ments and attention to predictable crises at various develop-
ment stages, can make the difference between achieving a
reasonable degree of independence and life satisfaction com-
pared with other more negative outcomes (27). Similarly,
intervention with children with autism has shown that these
children can show improvements in their functioning regard-
less of the type of intervention (70). It has been argued that
early guidance and monitoring of subjects and their families
thought to have ‘sociocultural handicap’ due to lack of stimu-
lation in childhood could have a large impact on the reduction
of this condition (13). Thus, early educational and psychoso-
cial intervention with all children with MR and their families
could have a significant impact on the eventual outcome.
Repeat assessments, especially if a diagnosis has not been
reached, are recommended as the phenotype (either physical
or psychiatric) may develop over time. The features of many
syndromes, such as Fragile X syndrome, are neither specific nor
constant and can evolve over time. It is preferable to continue
monitoring a patient rather than risk making a diagnosis that
may need to be retracted at a later time. For such patients,
annual evaluations until school age and a revaluation at puber-
ty are considered to be appropriate, when possible (50). Fifteen
per cent of children had their etiological diagnoses revised in
Paediatr Child Health Vol 8 No 6 July/August 2003
Lemay.qxd 24/07/2003 11:46 AM Page 353
one recent study (14). The ability to reach a diagnosis is also
likely to increase slowly over time as newer molecular and/or
cytogenetic techniques and improved intracranial imaging
methods evolve. Evaluating the patient over time also allows a
‘step-wise’ rather than a ‘shotgun’ approach to investigations.
Prognostic and reproductive counselling is also best done over
a longer time frame.
One challenge for the paediatrician, related to the difficulty
of making a definitive diagnosis of MR in a preschool child, is
not to miss the ‘window of opportunity’ for early intervention.
The family environment can act as a source of strength or
alternatively as a source of stress for a child with MR. Strutton
(71) noted that a family member with MR brings to family
members (be it father, mother, grandparent or sibling) different
ways of coping with the changes. Research that has investigat-
ed parental coping has found that mothers of children with
MR experience more stress and problems in psychosocial
adjustment than fathers (72-75). In addition, both mothers
and fathers are at higher risk for depression than parents of typ-
ically developing children (73). Investigations of siblings of
children with MR suggest that they experience unique stresses.
There is conflicting evidence about whether siblings receive
less attention and possibly even fewer holidays and outings
than their friends (71). Studies have also suggested that sib-
lings of children with MR take on more caretaking responsibil-
ities in the household than siblings of typically developing
children (76,77). Many siblings may be unable to account for
or understand their parent’s increased level of preoccupation,
sadness or anger at the realization that a family member has
MR (71). Further, siblings of children with MR may feel that
their parents favour the disabled children (78). Some siblings,
however, cope quite well with having a disabled sibling
(80,81). Exploring the changed relationships that a child with
MR brings to a family should not be neglected and requires
time and expertise.
Despite the additional stress associated with having a child
with MR, many families take on the responsibility of caring for
the child (with MR) with love. Unfortunately, this is not
always the case (71). There is evidence to suggest that siblings
of children with MR are well adjusted (80). Krauss et al (81)
found that this continues into adult life with a high level of
contact between siblings with disabilities and siblings without
disabilities. In one study, 41% of siblings without disability
reported in-person visits to their sibling with a disability at
least once a week or more, while 58% reported living within a
30-min drive of each other’s residence. Among the most com-
monly shared activities were going to a restaurant (63%),
shopping together (56%) and going to the movies (44%) (81).
Behaviours associated with self-harm, harm to others, dam-
age of property should be monitored for, as this will obviously
hinder social interaction. Appropriate behavioural modifica-
tion, such as applied behaviour analysis, may assist with such
difficult behaviours(82). Any behaviour modification program
will require a thorough description of the problem behaviours
including possible triggering factors. Behavioural interventions
are normally developed and implemented by a psychologist.
The paediatrician can, however, provide support and assis-
tance with the intervention plan. Modifications of such
behaviours will reduce stress on the family, make it easier for
participation in an educational and/or day program, and ulti-
mately improve the chances of the individual being able to live
in the noninstitutionalized community in the long term. All
Paediatr Child Health Vol 8 No 6 July/August 2003
A rational approach to the child with MR
these facets will lead to improved quality of life. Inappropriate
sexual behaviour can often be managed by changes in the
environment, training of the care givers and behaviour pro-
grams. Such behaviour may lead to social isolation and lack of
opportunity and should be anticipated at the time of puberty.
Restrictions in finances and time, and the lack of a clear
alternative may add pressure to use medication to resolve the
behavioural problem (83). While there are some situations
where medication may result in improvement, there is no sol-
id research evidence of their benefit (83). Certainly medica-
tion can be considered when there are unacceptable
restrictions on the person’s lifestyle or stigmatization of that
person within a community. Such therapeutic options may
include beta blockers, psychotropics, and serotonin-selective
reuptake inhibitors (SSRIs) (84). Risperidone, a psychotropic
drug, has the advantage of not having the degree of sedation or
parkinsonian adverse effects of the older psychotropics, but ini-
tial orthostatic hypotension is common (83).
Depression may be difficult to diagnose in people with
developmental disability making a trial of an SSRI worth con-
sidering. Citalopram has been found to be a safe and effective
antidepressant in mentally retarded subjects with depressive
disorders (85). Aggression may sometimes be due to irritability
associated with depression. SSRIs may have a beneficial effect
due to both their antidepressant and anxiolytic effects on
aggressive behaviour. Recently, fluoxetine has been found to
modify aggressive behaviour even without proven depression
(86). The response to treatment of any pharmacological treat-
ment should be monitored regularly and weighed against any
adverse effects. The temptation to continue increasing doses
should be avoided at the expense of exploring other possible
causes and management options of problem behaviours.
Chemical restraint of such patients should be avoided at all
costs. Finally, the involvement of child psychiatrists may be
strongly considered especially with these above issues.
Most studies investigating stimulant medication in children
with attention deficits excluded patients with MR, despite
attention deficit and hyperactivity being common clinical
problems in this group. Approximately 7% of mentally retard-
ed children received stimulant medication in one series (87).
There have been only a few controlled trials looking at the
efficacy of stimulant medications in children with MR and
attention deficit hyperactivity disorder (88). It is thought that
children with an IQ between 45 and 75 respond in a similar
way to children with a normal IQ, with improvements being
observed in impulsivity, hyperactivity and attention deficits
(88). Only minor effects were observed in social skills and aca-
demic performance. Stimulant response is much lower in chil-
dren between four and five years of age, and is not
recommended for those younger than three years. A positive
effect of methylphenidate has not been documented in chil-
dren with Fragile X syndrome or an IQ less than 45 (88,89).
Finally, children with MR are at greater risk of developing side
effects, with up to one in five children stopping therapy due to
tics and social withdrawal (90). More research is needed in this
area particularly looking at the efficacy of stimulants combined
with a parent’s training program or behavioural modification
program and the effects of stimulants on the long term course
of MR.
When considering the management of children with MR, it
is also important to consider the important role of preventive
medicine. Vaccination against rubella infection can protect
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Lemay et al
pregnant women and thus reduce the occurrence of multiple
disabilities. Public education about the effects of environmen-
tal teratogens such as cigarette smoke, alcohol and other sub-
stance abuse is crucial. Neonatal screening programs can allow
early treatment of conditions such as PKU and congenital
hypothyroidism. Finally, genetic counselling can outline the
risks involved to future children and allow parents to make an
informed decision about whether to have any further children.
PROGNOSIS
An important role for the physician is to assist families in plan-
ning for the future of their disabled child. This includes the
transition to adult medical care. The prognosis is in part deter-
mined by the underlying diagnosis or syndrome if found (6).
Children with mild MR can often acquire social and vocation-
al skills adequate for minimum self-support. They may need
supervision and assistance, especially when under stress. Most
individuals with moderate MR acquire communication skills
during the early childhood years. They may learn to travel
independently to familiar places and in their adult years are
able to perform unskilled or semiskilled work under supervision
in sheltered workshops or the general work force. Those with
severe MR may learn to talk during the school years and can be
trained in elementary self-care skills. In the adult years, they
can perform simple tasks in closely supervised settings.
Vocational support can provide dignified and productive work
and leisure pursuits.
Most adults with severe MR will live in the community in
group homes or with their families, unless an associated hand-
icap requires specialized nursing or other care (91). The provi-
sion of community-based residential support for people with
MR and their families may enable the person to remain a part
of his or her community and avoid institutionalization. After
reviewing the literature, Seltzer and Krauss (91) observed that
most patients with MR (60%) live at home with their families
as opposed to in institutions (15%). The important role of rela-
tionships with siblings and planning for care of adults who no
longer have family has been noted in the literature (91).
Features that may negatively affect the quality of life of adults
who live at home include poor functional and cognitive abili-
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.
Adults with no explicit future plan for placement are at risk for
emergency placements or placements not consistent with the
parents’ wishes.
Individuals with MR who do not have appropriate supports
are vulnerable to exploitation by others or being denied rights
and opportunities. Access to advocacy can support the person
with MR and the family and also press service providers and
governments to respond appropriately to their needs.
Enlightened policy and legislation can establish and support
the rights of people with MR as citizens (92).
CONCLUSION
The key to managing children with MR involves four basic
elements:
• Early identification.
• Determination of an underlying etiology (if possible).
• Prompt provision of rehabilitation or support services.
354
• Being an advocate for the parent(s) or caregiver (s) and
helping them to advocate rights for their child.
This review has sought to provide a definition of MR and its
severity. The assessment of a child with MR is a common diag-
nostic and management dilemma for paediatricians. The
prevalence of mild MR varies inversely with socioeconomic
status of the family, but moderate-to-severe MR occurs with
equal frequency across all social classes. Therefore, diagnosis of
MR includes a search for etiology in every case in childhood.
A number of etiologies should be strongly considered
including chromosomal abnormalities, Fragile X syndrome and
FAS. A thorough and careful delineation of the degree and
profile of cognitive deficits and any associated dysfunctions
should be done in all cases of suspected MR. The sociocultural
and home environment should also be evaluated. There are a
number of key points in the history (prenatal factors, family
pedigree) and examination (skin, growth parameters, dysmor-
phisms, neurology) that may help point to a diagnosis or sug-
gest the timing of the insult.
A banded karyotype and Fragile X molecular study should
be strongly considered in all patients, particularly if there is a
suggestive family history or no other apparent diagnosis. MRI
of the head is the preferred mode of imaging but is not manda-
tory. However, it should be considered if there is abnormal
head size or cranial contour, seizures, neurocutaneous stigmata
or neurological findings. Metabolic screens and EEG are likely
to have a low yield unless there are specific clinical indica-
tions, which were outlined above. The involvement of a sub-
specialist (genetics, neurology or developmentalist) is likely to
augment the above work-up and help with counselling about
prognosis and recurrence.
Repeat assessments are quite beneficial, particularly if the
diagnosis is not apparent. Anticipating possible medical com-
plications and referral to appropriate agencies (therapy, educa-
tional, support, financial) early on is key to management. Long
term planning, such as vocational training, living arrange-
ments and medical care in the adult years, is also best started
sooner rather than later. The paediatrician has a central role
in establishing short and long term treatment goals, as well as
providing support to families who have children with MR.
ACKNOWLEDGEMENTS: We would like to thank Brenda
Greig for her support and assistance in the preparation of this
manuscript.
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