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Flashcards in assess developmental disorders Deck (25):

Define normal development

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


define abnormal development

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


developmental delay

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


domains of development

gross motor, fine motor, language, cognitive and social


Methods used to assess development

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


compare/contrast developmental delay with intellectual disability

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


degrees of intellectual disability

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


Compare/contrast intellectual disablity with mental retardation

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


What is cerebral palsy

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


Types of cerebral palsy

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%


Define autism

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)


List other autism spectrum disorders

PDD-NOS and Asperger


Define developmental disability

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).


developmental disability vs intellectual disability

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


Types of developmental disorders

Congenital, genetic/heritable or acquired


Types of congenital developmental disorders

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


Types of genetic/heritable developmental disorders

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


Types of acquired/postnatal developmental disorders

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


developmenal disability tests

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


Metabolic studies

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


Fragile X clinical features and genetics

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


Rett syndrome clinical features and genetics

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


Angelman syndrome clinical features and genetics

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


Risk factors for lead poisoning

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


Prevalance of hypothyroidism in children

newborn screening has virtually eliminated this problem