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Developmental Milestones

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


Gross Motor Milestones

- 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


Fine Motor Milestones

- 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


Social Skills Milestones

- 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


Language Milestones

- 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


Self-Help milestones

- 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


Cognitive milestones

- 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


Screening Tools

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


APGAR Scores

- 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)


AAP Recommendations for developmental screening

- 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


Developmental Delay

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


Evaluation of a child with global developmental delay

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


Intellectual Disability

- Defined as IQ of less than 70
- Etiology is identifiable in


Mild ID

- 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


Moderate ID

- 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


Severe ID

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


Profound ID

- 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


Genetic evaluation of intellectual disability

- 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


Autistic Spectrum Disorders are diagnosed based on:

- Impairments insocial reciprocity
- Communication impairments
- Behavioral abnormalities


Autistic Spectrum Disorders include the diagnoses

- 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


Stats on Autistic Spectrum Disorders

- 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


Autism characterized by

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


Autism Facts

- 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)


Genetic Testing for Autism

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


Importance of making a specific diagnosis

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


Array CGH Analysis

- 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


Advantages of SNP Array

- 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)


Limitations of Array CGH

- 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 (


Exome Sequencing

- 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


Services for the child with learning disabilities

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


Early Intervention Services

- 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


All children with developmental disabilities should have

- SNP oligonucleotide array analysis
- Molecular Fragile X testing


Metabolic studies should be considered especially in cases of