Assessment of Developmental Disorders

Question 1

Describe normal development

Answer 1

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

Question 2

how do you evaluate and assess normal development?

Answer 2

Milestones, parent questionnaires, physical exam, or formal evaluation with child development team. There are some screening tests too.

Question 3

Describe abnormal development

Answer 3

individual who is unable to achieve developmental milestones as expected compared to those of similar age

Question 4

what is the cause of cerebral palsy?

Answer 4

a variety –> infections, toxins, lead poisoning, trauma, encephalitis/meningitis, asphyxia, 2% of cases are inherited. common in premies.

Question 5

How do you diagnose cerebral palsy?

Answer 5

usually diagnosed with history and physical. A general movements assessment seems to be most accurate.

Question 6

what is developmental delay? How’s it different?

Answer 6

Usually 2 SD below the mean for normal development. Development quotient is a metric used to define it = developmental age/chronological age. >85 give reassurance, 70-85 close monitoring,

Question 7

What is intellectual disability? How’s it different?

Answer 7

Criteria: 1) present from childhood (below age 18) 2) intellectual functioning at least 2 SD below mean 3) significant limitations in at least 2 adaptive skill areas (communication, self care, home living, social skills, community use, self direction, health and safety, functional academics, leisure and work)

Question 8

borderline development?

Answer 8

Between 1 and 2 SD from mean (double check)

Question 9

How do you distinguish between developmental delay and intellectual disability?

Answer 9

All children with intellectual disability have developmental dealy BUT not all children with developmental delay have intellectual disability.

Question 10

degrees of intellectual disability

Answer 10

mild (70-50IQ), moderate (50-35IQ), severe (35-20IQ), profound(

Question 11

characteristics of cerebral palsy?

Answer 11

acquired, non-progressive, MOTOR IMPAIRMENT, onset in utero, infancy or early development. CP is a group of movement disorders that appear in early childhood.

Question 12

types of cerebral palsy

Answer 12

spastic (70-80%), athetoid/dyskinetic (20%), ataxic (

Question 13

How does she define autism?

Answer 13

delays or abnormal functioning in at least one of following areas, with onset prior to age 3: social interaction, language, symbolic or imaginative play..

Question 14

so how is developmental disability (DD) different from ID?

Answer 14

DD is more of an umbrella term that includes ID

Question 15

How is developmental disability defined?

Answer 15

Severe, chronic disability of an individual 5 years of age or older that 1) is attributable to a mental or physical impairment or both 2) is manifested before the age of 22 3) is likely to continue indefinitely. Substantial functional limitations in 3 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 16

etiology of developmental disorders

Answer 16

1) congenital (CNS malformation, neurocutaneous disorders (TSC, NF, etc)) 2) genetic (fragile X, DS) 3) acquired: TORCHES, perinatal stroke

Question 17

clinical approach to developmental disability

Answer 17

History and physical, metabolic testing, cytogenetic studies, lead and thyroid testing, EEG, neuroimaging, optho exama

Question 18

what does a metabolic study for DD include?

Answer 18

serum organic acids, urine organic acids, serum lactate, serum ammonia, serum pyruvate

Question 19

what causes fragile X?

Answer 19

mutation in FMR1 gene from a CGG trinucleotide repeat

Question 20

Clinical features of fragile X?

Answer 20

long jaw, high forehead, large/protuberant ears, hyperextensible joints, soft/velvety palmar skin, enlarged testes, initially shy with poor eye contact then friendly and verbose, family history of mental retardation

Question 21

what is the cause of Rett syndrome?

Answer 21

mutation in x-linked MECP2 gene

Question 22

what are the clinical features of Rett syndrome?

Answer 22

microcephaly, ataxia, autistic features, stereotypical hand movements, hyperventilation, seizures.

Question 23

clinical features of angelman’s syndrome?

Answer 23

wide mouth and prominent chin, seizures, microcephaly, nonverbal, happy demeanor/frequent smiling, ataxia, hand flapping

Question 24

what is the cause of angelman syndrome?

Answer 24

chromosome 15q11-13 methylation/deletion

Question 25

what are some risk factors for lead poisoning (common cause of DD)?

Answer 25

old house, victims of abuse and neglect, low income, parents that are exposed to lead. some sources = plumbing, paint, dust from pets and floor.

Question 26

what is work up for development delay generally geared towards?

Answer 26

history and physical