assess developmental disorders

Question 1

Define normal development

Answer 1

An individual that grows and matures on an expected path and achieves developmental milestones appropriately

Question 2

define abnormal development

Answer 2

An individual that is unable to achieve developmental milestones as expected compared to individuals of similar age

Question 3

developmental delay

Answer 3

Usually 2 standard deviations below the mean for a child’s chronological age, corrected for prematurity. Developmental quotient: developmental age/chronological age. >85% is ok, 70-85% requires close monitoring and <70 refer

Question 4

domains of development

Answer 4

gross motor, fine motor, language, cognitive and social

Question 5

Methods used to assess development

Answer 5

History (milestones), parent report questionnaires (ages and stages), physical exam, denver II, formal evaluation by child development team

Question 6

compare/contrast developmental delay with intellectual disability

Answer 6

All children with Intellectual disability have developmental delay but not all children with developmental delay have intellectual disability

Question 7

degrees of intellectual disability

Answer 7

Mild: IQ 50-70. Moderate: IQ 35-50. Severe: IQ 20-35. Profound: IQ < 20

Question 8

Compare/contrast intellectual disablity with mental retardation

Answer 8

same thing! IQ 2 adaptive skill areas including communication, self care, home living, social sklls, community use, self direction, health and safety, functional academics, leisure and work

Question 9

What is cerebral palsy

Answer 9

An acquired, non progressive disease with motor impairment and onset in utero, infancy or early development

Question 10

Types of cerebral palsy

Answer 10

1. spastic: 70-80%. Can be quadraplegic (both arms and legs affected), paraplegic (both legs only), diplegic (both legs with slight involvement elsewhere), or hemiplegic (arm and leg on one side). 2. Athetoid/dyskinetic: 20%. 3. Ataxia: <10%

Question 11

Define autism

Answer 11

delays in at least 1 of the following before age 3: social interaction, language as used in social communications, symbolic (emerges aroung 20 months) or imaginitive play (emerges around 2 years)

Question 12

List other autism spectrum disorders

Answer 12

PDD-NOS and Asperger

Question 13

Define developmental disability

Answer 13

Severe, chronic disability of an individual 5 years of age or older that:1. Is attributable to a mental or physical impairment or combination. 2. Is manifested before the person attains age 22. 3. Is likely to continue indefinitely 4. Substantial functional limitations in three or more areas of major life activity (Self care, Receptive and expressive language, Learning, Mobility, Self-direction, Capacity for independent living, Economic self sufficiency).

Question 14

developmental disability vs intellectual disability

Answer 14

They are similar, but DD is more of an umbrella term that includes ID

Question 15

Types of developmental disorders

Answer 15

Congenital, genetic/heritable or acquired

Question 16

Types of congenital developmental disorders

Answer 16

1. CNS malformation: Malformations of cortical development, Neurocutaneous disorders (TSC, NF, etc). 2. Intrauterine acquired: Infectious (CMV, toxoplasmosis, etc), Toxic (fetal alcohol, etc), Stroke, Unknown (E.g, congenital hydrocephalius

Question 17

Types of genetic/heritable developmental disorders

Answer 17

1. Single gene disorders: classic mendelian (PKU), complex mendelian (mosaicism, imprinting, triple repeats), non-mendelian (mitochondrial). 2. Chromosomal: insertions deletions, duplications

Question 18

Types of acquired/postnatal developmental disorders

Answer 18

1. Perinatal: Asphyxia, Prematurity/intracranial hemorrhage, Stroke. 2. Trauma: Non-accidental trauma. 3. Infectious. 4. Nutritional. 5. Metabolic: Hypoglycemia. 6. Epileptic encephalopathy

Question 19

developmenal disability tests

Answer 19

history/physical, • Metabolic testing • Cytogenetic studies • Lead and thyroid testing • Eeg • Neuroimaging

Question 20

Metabolic studies

Answer 20

Serum Amino acids – Urine Organic acids – Serum Lactate – Serum Ammonia – Serum Pyruvate

Question 21

Fragile X clinical features and genetics

Answer 21

Mutation in FMR1 gene from a CGG trinucleotide
repeat. – long jaw – high forehead – large/ protuberant ears – hyperextensible joints, – soft/ velvety palmar skin, – enlarged testies – initially shy with poor eye contact, then friendly and verbose. – Family history of MR

Question 22

Rett syndrome clinical features and genetics

Answer 22

X linked MECP2 gene. – Microcephaly – Ataxia – Autistic like features – Stereotypical hand movements – Hyperventilation – Seizures

Question 23

Angelman syndrome clinical features and genetics

Answer 23

Chromosome 15q11-13 methylation/deletion. – Wide mouth and prominent chin – Seizures – Microcephaly – Nonverbal – Happy demeanor/ frequent smiling – Ataxia – Hand flapping

Question 24

Risk factors for lead poisoning

Answer 24

– House built in 1950 or earlier – Victims of abuse and neglect – Parents that are exposed to lead (vocationally, home renovations) – Low income families

Question 25

Prevalance of hypothyroidism in children

Answer 25

newborn screening has virtually eliminated this problem