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MRCPsych - Child Psychiatry And Learning Disabilities: Q’s And A’s
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MRCPsych - Child Psychiatry And Learning Disabilities:Q’s And A’s
All of the following are features of Down's syndrome except
A. Increased cardiac mortality and morbidity
B. Lax ligaments
C. Wide gap between first and second toes
D. Increased incidence of leukaemia
E. Delayed puberty Right Ans - E
One of the most common causes of death in Down's syndrome is congenital
heart disease.
Common phenotypic features seen in children with Down's syndrome include
brachycephaly (small head), broad hands, single palmar crease, epicanthal
folds, clinodactyly of fifth finger (bent finger), flat nasal bridge, and wide gap
between first and second toes, hypotonia with lax ligaments, short stature,
and mental retardation.
In addition, children may have congenital heart defects such as ventricular
septal defect, duodenal atresia at birth, and increased incidence of leukaemia
in childhood.
Atlantoaxial subluxation may occur in children with Down's syndrome,
leading to spinal cord compression.
The signs and symptoms of hypothyroidism can develop slowly over time and
can be difficult
to discriminate from those of Down's syndrome itself.
No differences have been found in terms
of age of onset of the physical features of puberty in adolescent girls and boys
with Down's
syndrome compared with general population trends. In men, reproductive
capacity appears to be diminished, but women with Down's syndrome are
able to bear children.
,behavioural and psychiatric disorders associated with Down's syndrome
Right Ans - Children with Down's syndrome are known to be gentle, mild
mannered, and easygoing.
It is reported that emotional and behavioural problems are less frequent than
other forms of
learning disabilities. Medical causes must be ruled out before considering a de
novo psychiatric
explanation for behavioural and emotional problems.
The dual diagnoses of Down's syndrome
and autism has been recognized for some time, with recent reports quoting
7% of Down's
syndrome children having autism.
Seizures are a frequent clinical feature of Alzheimer's dementia in those with
Down's
syndrome
Early-onset seizures in Down's syndrome seem to be unrelated to Alzheimer's
type of pathology.
EO Lewis Right Ans - EO Lewis suggested the distinction between
subcultural learning disability and biological
learning disability in 1933. 'Subcultural mental handicap' refers to the lower
extreme variant of
IQ distribution seen in the population. The biological or pathological type is
seen to be evenly distributed across all social classes, whereas the subcultural
type is often seen in social class V and associated with mild rather than
profound disability.
Many family members of individuals with subcultural learning disability may
also have borderline IQ, probably due to the effects of shared environment
and social influences.
Leo Kanner Right Ans - Kanner was an Austrian-American psychiatrist,
physician, and social activist best known for his work related to autism.
foetal alcohol syndrome
, All of the following are true with regard to foetal alcohol syndrome except
A. Decreased cranial size at birth
B. Agenesis of the corpus callosum
C. Neurosensory hearing loss
D. Poor eye-hand coordination
E. Congenital cataract Right Ans - E
The diagnostic criteria for foetal alcohol syndrome includes confirmed
maternal alcohol exposure in addition to evidence of characteristic facial
anomalies such as short palpebral fissures and abnormalities in the
premaxillary zone, including flat upper lip, cleft palate, flattened philtrum, and
flat midface.
Evidence of growth retardation includes low birthweight for gestational age
or decelerating weight gain over time not due to undernutrition.
Features suggestive of neurodevelopmental abnormalities such as decreased
cranial size at birth, structural brain abnormalities (e.g. microcephaly, partial
or complete agenesis of the corpus callosum, cerebellar hypoplasia), and
neurological signs (impaired fine motor skills, neurosensory hearing loss,
poor tandem gait, poor eye-hand coordination) are also included in the
diagnostic criteria.
Congenital cataract is not suggestive of foetal alcohol syndrome; in infants
with cataract, other explanations for developmental problems such as
toxoplasmosis, congenital rubella, or metabolic syndromes must be sought.
Smith-Magenis syndrome Right Ans - Smith-Magenis syndrome has a
prevalence of 1: 500 000. It is caused by a microdeletion on the short arm of
chromosome 17p11·2. The degree of intellectual impairment is usually
variable.
The phenotype includes bradydactyly, a broad, flat face, hoarse voice, and a
characteristic fleshy upper lip, although these features may be very subtle.
Prominent autistic features, hyperactivity (in 75%), inattention, and self-
injury (in 70%) such as head banging, nail pulling, and hand biting, are seen.
Nocturnal and diurnal enuresis may also be present.
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