Arrested Intellectual Development Flashcards
(32 cards)
What is learning disability?
arrested or incomplete development of the mind; esp. in impairment of skills manifested during the developmental period
What are the criteria for diagnosing learning disability?
IQ<70; developmental aetiology <18 years and deficits in adaptive function
What is the most commonly used psychometric assesment of IQ?
Wechsler Adult intelligence scale
What is mild LD defined as in IQ?
50-69
What is moderate LD defined as in IQ?
35-49
What is severe LD defined as in IQ?
20-34
What is profound LD defined as?
IQ <20
What are the antenatal factors in developing LD?
maternal infections; poor diet and substance abuse
What are the birth factors in developing LD?
extreme prematurity; birth injury and cerebral anoxia
What are the postnatal factors in developing LD?
metabolic; hypoglycaemia; high bilirubin
What are the genetics of Patau syndrome?
trisomy 13
What are the genetics of Edwards syndrome?
trisomy 18
What are the CVS defects seen with Down’s syndrome?
atrial or ventricular septal defects; mitral valve disease; patent ductus arteriosus
What are the common endocrine abnormalities in Down’s syndrome?
hypothyroid (20%); diabetes; overweigt
What is the striking feature of Prader-Willi sydrome?
hyperphagia with associated compulsive food seeking and marked obesity
What are hte common GI abnormalities seen in Down’s syndrome?
oesophageal atresia; hirschprung disease; umbilical and inguinal hernia
What are hte features of Angelman syndrome?
ataxia; epilepsy; paroxysms of laughter; absence of speech; severe/profounf LD; blonde hair/blue eyes
What is the otehr name for DiGeorge syndrome?
velo-cardio-facial syndrome
What are the features of DiGeorge syndrome?
Cardiac Abnormal facies Thymus hypoplasia Cleft palate Hypocalcaemia 22-chromosome
What psychiatric condition are DiGeorge patients more likely to get?
schizophrenia
What is cri-du-chat syndrome characterised by?
cat-like cry (abnormal larygneal development); microcephaly; LD
What is the cause of fragile X syndrome?
faulty FMR1 gene; X-linked dominant transmission
What are the features of fragile X?
6M Mental retardation Macro-jaw Macrotia Macro-orchidism Mutation in FMR1 Mitral valve abnomalites
How is phenylketonuria diagnosed?
Guthrie test postnatally