DEVELOPMENT DISORDER IN Dr.

Swati (MPT Pediatrics)

PEDIATRICS
The cognitive growth and behavioural phenotype of an individual chiefly reflect the
growth and development of the body, particularly the brain, during early years.
Factors like nutrition, environment and social and emotional milieu play a significant
role.
Global developmental delay is defined as delay in acquiring milestones in two or
more of the following domains, namely gross and fine motor, speech and language,
cognition, socio-personal and activities of daily living.
Above 5 years of age, the term intellectual disability is used, replacing the previously
used term mental retardation. The estimated prevalence varies between 2.5 and5%.
DEVELOPMENTAL DEVIANCE AND DISSOCIATION
Deviance is the acquisition of milestones in a sequence that is different from usual. For
example, children with cerebral palsy may show early standing with support
secondary to extensor tone. This may also be seen in normally developing children;
children may not crawl and directly start walking from sitting and standing without
support.
Dissociation is defined as the acquisition of developmental milestones in various
domains at differing rates, e.g. isolated speech delay with normal development in
other spheres, as in patients with congenital hearing loss.
 ETIOLOGY
An etiology can be defined
in 70% patients with
developmental disorders.
In developed countries,
antenatal factors
predominate; whereas in
the developing world,
perinatal and postnatal
factors are more common.
Patients with
developmental delay may
have various comorbidities
depending on the etiology.
A child with developmental delay is managed by a multidisciplinary team comprising
of a pediatric neurologist, geneticist, psychologist, psychiatrist, occupational and
physiotherapist, speech therapist, audiologist, ophthalmologist, nutritionist and social
worker. Early intervention is important to achieve the maximum potential.
AUTISM SPECTRUM DISORDER (ASD)
Autism spectrum disorder (ASD) is characterized by the triad of qualitative
impairment of social behavior, communication (verbal nnd non-verbal) skills and
associated stereotypic and restrictive behavioral patterns, with onset before 3 years
of age.
The estimated global prevalence is 1 to 2%.
Autism spectrum disorder:
• Onset before 3 years of age
•Impaired verbal and gestural communication
•Defect in social and emotional reciprocity
•Stereotypic and restrictive behavioural patterns
ETIOPATHOGENESIS
The pathogenesis of autism is not clear. Abnormalities in neural connectivity and
migration, dendritic and synaptic morphology and functioning of mirror neurons have
been implicated.
Genetic causes such as fragile X syndrome, tuberous sclerosis, Angelman syndrome
and metabolic disease like phenylketonuria and hypothyroidism account for 10%
cases.
DIAGNOSTIC EVALUATION
The Diagnostic and Statistical Manual of Mental Disorders (DSM) IV required
fulfilment of a minimum number of symptoms listed in the three domains (social
interaction, communication and behaviour) to label a child as having an ASD.
Guidelines, according to DSM 5, have combined social interaction and communication
domains into one.
Thus to be labelled as having an ASD, a child has to fulfil a minimum number of
symptoms in two domains (social interaction and communication, and behavior).
The chief therapy is behavioural intervention; the role of pharmacothernpy is limited
ATTENTION DEFICIT HYPERACTIVITY DISORDER
(ADHD)
Attention deficit hyperactivity disorder (ADHD) is the most common neurobehavioral
disorder of childhood.
Its prevalence in India was estimated at 1.3 per 1000. The American Academy of
Paediatrics recommends evaluating any child between 4 and 18 years of age for
ADHD, if he or she presents with academic or behavioural problems with symptoms of
inattention, hyperactivity and impulsivity.
Onset up to 12 years of age
Present in at least 2 different social settings
Interfering with social, academic and occupational functioning Inattention (difficulty
sustaining attention, prone to careless mistakes, easily distracted)
Hyperactivity (often on the go, fidgety)
impulsivity (intrusive, interruptive, cannot wait for turn)
ADHD is diagnosed clinically.
The DSM 5 criteria require fulfillment of predefined number of criteria in inattention,
hyperactivity and impulsivity domains.
The onset of symptoms can be up to 12 years of age and they should be present in
at least two different settings interfering with the social, academic and occupational
functioning of an individual.
The cornerstone of management is psychotherapy tailored for each individual and
the family. In patients with inadequate response to psychological interventions, drugs
like methylphenidate and atomoxetine are indicated.
SPECIFIC LEARNING DISABILITY
Specific learning disability is defined as a persistent impairment in reading
(dyslexia), writing (dysgraphia) and/ or arithmetic (dyscalculia) skills in an individual
with preserved cognition, vision, hearing and adequate opportunities. It affects 5-
15% of school-going children.
Dyslexia accounts for 80 percent of all specific learning disabilities. These disorders
are probably caused by functionally disrupted networks in the cerebral cortex with
intact anatomy.
DIAGNOSIS
Features suggestive of specific learning disabilities include reading slowly and
incorrectly, skipping lines while reading aloud, making repeated spelling mistakes,
untidy /illegible hand-writing with poor sequencing, and inability to perform even
simple mathematics, incoherent to the child's intelligence level.
The DSM 5 diagnosis of SLD requires fulfilling a predefined number of criteria in
reading, writing and arithmetic skills and these impairments should persist despite
interventions targeting the specific disability for at least 6 months
EATING DISORDERS
This group consists of primarily two disorders, anorexia nervosa and bulimia that
chiefly affect girls and have in common a disturbed body image perception.
Anorexia nervosa usually affects 15--19 years old girls.
Characteristic features are an intense fear of becoming fat even though the child is
underweight, with body weight <85% of expected.
Two subtypes are recognised, with either restricted eating or increased physical
activity. Induced vomiting or use of laxatives and diuretics may be present.
Complications include secondary amenorrhea and metabolic complications related to
malnutrition.
Bulimia affects 10-19 years old children, chiefly girls.
There are recurrent episodes of binge eating alternating with inappropriate
compensatory behavior such as self induced vomiting, misuse of laxatives, diuretics or
enemas, each occurring at least twice a week for 3 months.
Depression, anxiety, suicidal ideation and/ or obsessive compulsive disorder are
often present.
Management of both conditions focuses on psychotherapy, along with nutritional
rehabilitation and treating comorbidities and complications.
PICA
Pica is the persistent ingestion of non-nutritive substances such as plaster, charcoal,
paint and soil for at least 1 month, inappropriate to the child’s development level
and cultural practice. It is common in children less then 5 years of age.
Poor socioeconomic status, malnutrition and iron deficiency are commonly associated.
Developmental delay, psychosocial stress (maternal deprivation, parental neglect and
abuse) and other behavioral disorders can predispose to pica.
Children with pica are at increased risk for lead poisoning and parasitic infestations.
Management comprises behavior modification, alleviating the psychosocial stress,
screening for lead poisoning, deworming and iron supplementation.
TEMPER TANTRUMS
Temper tantrums are a child's response to physical or emotional challenges by
attention seeking tactics like I yelling, biting, crying, kicking, pushing, throwing objects,
hitting and head banging.
Tantrums typically begin at 18-36 months of age and gradually subside by the age
of 3-6 years.
Parents are counselled to handle this behavioural problem strategically, by staying
calm, firm and consistent so that the child is unable to take advantage from such
behavior.
The child should be protected from injuring himself or others. Distraction and 'time out'
techniques are useful
OPPOSITIONAL DEFIANT DISORDER
Oppositional defiant disorder is a repetitive and persistent pattern of opposing,
defiant, disobedient and disruptive behavior towards authority figures persisting for
at least 6 months.
Many children are later diagnosed with conduct disorders.
Diagnostic criteria for labeling the condition have been developed. Oppositional
defiant disorder results from interplay of factors in the child's characteristics, parental
interactions and environmental factors.
Family history of mental health problems such as depression, ADHD or antisocial
personality is often seen. The management should focus on alleviating risk factors or
stresses that might contribute to oppositional behavior. Use of stimulant medication is
effective in patients with ADHD.
BREATH-HOLDING SPELLS
Breath-holding spells are reflex events typically initiated by a provocation that
causes anger, frustration or pain making the child cry.
The crying stops at full expiration, and the child becomes apneic and cyanotic or
pale. In some cases, the child may become unconscious and hypotonic.
In prolonged events, brief tonic-clonic movements may happen.
Breath-holding spells are rare before 6 months of age, peak at 2 years and abate
by 5 years of age. The differential diagnoses include seizures and cardiac
arrhythmias.
The essential component of management is parental reassurance. The family should
be advised to be consistent in handling the child, to remain calm during the event,
turn him sideways so that secretions can drain and avoid picking the child up (since
this decreases blood flow to the brain).
The family should avoid exhibiting undue concern nor give into the child's demands, if
the spell was provoked by anger or frustration.