Developmental Delay

Question 1

Developmental Milestones

Answer 1

• Gross Motor
• Fine Motor
• Social
• Language
• Self help
• Cognitive

Question 2

Gross Motor Milestones

Answer 2

• 2 mo. to 4.5 mo.: Rolls over
• 5 to 8 months: sits without support
• 10 to 14 months: stands alone
• 14 to 20 months: walks up steps
• 21 to 28 months: pedals tricycle
• 30 to 44 months: balance on one foot
• By age 6: rhythmic skipping
• By age 10: holds tandem stance for 10 seconds with eyes closed

Question 3

Fine Motor Milestones

Answer 3

• 2.5 to 4 months: grasps rattle
• 4.5 to 7 months: transfers cube hand to hand
• 8 to 12 months: neat pincer grasp
• 15 to 20 months: builds tower of four cubes
• 18 to 24 months: imitates vertical line
• 28 to 36 months: copies circle
• by age 5: draws square
• by age 7: draws diagonal line
• by age 12: draws 3D cube

Question 4

Social Skills Milestones

Answer 4

• 1.5 to 4 months: smiles at others
• 4 to 9 months: seeks primary caregiver
• 8 to 15 months: stranger anxiety
• 10 to 15 months: displays 2 or more recognizable emotions
• 11 to 20 months: exploratory play by self
• 21 to 36 months: cooperative play in small groups

Question 5

Language Milestones

Answer 5

• 2 to 3 months: cries, coos, grunts
• 4 to 6 months: babbling, makes most vowels, some consonants
• 10 to 12 months: says one or two words, imitates sounds
• 18 to 24 months: vocab of more than 200 words
• by 3 years: talks in short sentences
• by 4 to 5 years: talks clearly, uses adult speech sounds, mastered basic grammar, knows over 2,000 words by age 5

Question 6

Self-Help milestones

Answer 6

• 4.5 to 8 months: feeds self crackers
• 10 to 14 months: drinks from cup
• 13 to 19 months: removes clothes
• 18 to 28 months: washes and dries hands
• 30 to 42 months: dresses without supervision
• by age 4.5: rides a bicycle with training wheels, cuts paper with scissors, colors inside lines
• by age 5.5: ties shoelaces, prints first and last names
• by age 6: rides bicycle without training wheels

Question 7

Cognitive milestones

Answer 7

• 0 to 3 months: turns head toward bright colors/lights/sound; responds to noise
• 3 to 6 months: opens mouth for spoon, imitates familiar actions
• 7 to 12 months: copies sounds and actions, responds to music
• 13 to 18 months: identifies objects in picture book, laughs at silly actions, follows simple 1 step directions
• by age 3: pays attention for 3 minutes, remembers yesterday, knows some numbers, matches circles and squares
• by age 5: can count 10 or more objects, correctly names 4 colors, time concepts, knows about things used every day at home

Question 8

Screening Tools

Answer 8

• APGAR scores at birth
• General developmental assessments
• Tailored assessments for specific disorders (autism)
• Tailored assessments for specific areas of concern (language)

Question 9

APGAR Scores

Answer 9

• Used to assess the condition and prognosis of a newborn
• performed at 1 minute and 5 minutes of life
• Score of 7 or higher = good or excellent
• A: Appearance (color)
• P: Pulse (heart rate)
• G: Grimace (reflex irribility)
• A: Activity (muscle tone)
• R: Respiration (respiratory effort)

Question 10

AAP Recommendations for developmental screening

Answer 10

• all children should be screened for developmental delays and disabilities during regular well-child doctor visits at:
• 9 months
• 18 months
• 24 to 30 months
• Additional screening might be needed if a child is at high risk for developmental problems

Question 11

Developmental Delay

Answer 11

• Defined as performance significantly below average in a given area or skill (DQ

Question 12

Evaluation of a child with global developmental delay

Answer 12

• SNP oligonucleotide array
• Fragile X molecular testing (2.6% yield)
• Exome testing
• Routine metabolic screen is not helpful (low yield,

Question 13

Intellectual Disability

Answer 13

• Defined as IQ of less than 70

- Etiology is identifiable in

Question 14

Mild ID

Answer 14

• can acquire academic skills up to the sixth grade level

- can become fairly self-sufficient and in some cases live independently, with community and social support

Question 15

Moderate ID

Answer 15

• Can carry out work and self care tasks with moderate supervision
• Communication skills obtained in childhood
• Able to live and function successfully within the community in a supervised environment such as a group home

Question 16

Severe ID

Answer 16

• May master very basic self care skills and some communication skills
• Many severely intellectually disabled individuals are able to live in a group home

Question 17

Profound ID

Answer 17

• MAY be able to develop basic self care and communication skills with appropriate support and training
• Often caused by an accompanying neurological disorder
• need a high level of structure and supervision
• may need specialized medical care

Question 18

Genetic evaluation of intellectual disability

Answer 18

• SNP oligonucleotide array analysis
• consider MRI if clinically indicated
• single gene testing if a specific disorder is suspected
• metabolic studies
• exome testing
• Follow up is key

Question 19

Autistic Spectrum Disorders are diagnosed based on:

Answer 19

• Impairments insocial reciprocity
• Communication impairments
• Behavioral abnormalities

Question 20

Autistic Spectrum Disorders include the diagnoses

Answer 20

• Autism specturm disorders
• Asperger Syndrome: normal intelligence and language, with some autistic traits
• Pervasive Developmental Disorder, Not Otherwise Specified (PDD-NOS): also called atypical autism, or mild autism; differences in some of the same area as autistic children, but not as severe

Question 21

Stats on Autistic Spectrum Disorders

Answer 21

• At least 2/1000 children have autistic spectrum disorders
• Gender ratio, 4:1 boys to girls
• Parents may not symptoms as early as infancy, though typical age of onset is 3 years

Question 22

Autism characterized by

Answer 22

• Difficulties with social interaction
• displays problems with verbal and nonverbal communication
• exhibits repetitive behaviors or narrow, obsessive interests

Question 23

Autism Facts

Answer 23

• 5 to 10% of autism is due to an identifiable medical disorder: chromosome abnormality, Fragile X, oligonucleotide array abnormalities
• Empiric recurrence risks available: range from 3 to 10%; some suggest 25% risk may be given if there are 2 or more affected siblings (suggesting an underlying genetic syndrome yet to be characterized)

Question 24

Genetic Testing for Autism

Answer 24

• SNP oligonucleotide array testing
• Molecular Fragile X studies
• Metabolic testing (limited use)
• Exome slice testing
• Exome testing

Question 25

Importance of making a specific diagnosis

Answer 25

- prognosis - recurrence risk (inherited vs. de novo) - management - treatment - an answer for the family

Question 26

Array CGH Analysis

Answer 26

- Known by many names: CGH, microarray analysis, oligonucleotide array analysis - Most screen for 250 to 300 known disorders (lab specific, many versions of arrays available) - Evaluates areas of the genome for gains or losses (dups or dels) in higher resolution than a high resolution chromosome analysis - 24% of autism spectrum disorders have an array CGH abnormalities - Detects an abnormality in approx. 10-20% of kids with DD/MR with or without congenital anomalies - Microdeletions/duplications explain approximately 5% of males with idiopathic X-linked MR - Can be used as a replacement for FISH when a del/dup syndrome is suspected - Simultaneously and rapidly evaluates thousands of regions of the genome

Question 27

Advantages of SNP Array

Answer 27

- Detects chromosome imbalances that may not be detected by traditional karyotyping - Identifies and further characterizes chromosome imbalances identified by karyotyping (unbalanced rearangements, etc.) - Adding the SNP array identifies regions of homozygosity: (uniparental disomy, triploidy, non-paternity, consanguinity, autosomal recessive disorders due to shared parental ancestry)

Question 28

Limitations of Array CGH

Answer 28

- Cannot find BALANCED chromosomal rearrangements (translocations, insertions, inversions) - cannot detect change in gene DNA sequences (point mutations, triplet repeats, etc.) - Cannot detect gains or losses in regions of the genome not covered by the array (regions with a high frequency of repetitive DNA sequences) - Does not rule out most of the known genetic syndromes - cannot detect low level mosaicism (

Question 29

Exome Sequencing

Answer 29

- selectively sequences the coding regions of a genome - used to identify novel genes and common genes - can be done in a tiered approach (slice) - CNVs are still a problem - presymptomatic testing as a consequence

Question 30

Services for the child with learning disabilities

Answer 30

- Early Intervention - Specialized Developmental Treatment Programs (child development unit, children's institute) - Psychologist/Psychiatrist - IEP: Individual Educational Program - Specialized Schooling

Question 31

Early Intervention Services

Answer 31

- Assistive technology devices - Audiology services - Speech and language services - Counseling and training for a family - Medical and Nursing services - Nutrition services - Occupational and physical therapy - Psychological services

Question 32

All children with developmental disabilities should have

Answer 32

- SNP oligonucleotide array analysis | - Molecular Fragile X testing

Question 33

Metabolic studies should be considered especially in cases of

Answer 33

regression