Eduovisual
Human Development
Developmental milestones: surveillance and screening
— Developmental surveillance: longitudinal, informal process at every well-child visit (elicit parental concerns, observe child, review milestones, identify risk factors, document)
— Developmental screening: formal, validated, standardized tool administered at specific ages regardless of risk
— Developmental evaluation: in-depth assessment by specialist (developmental pediatrics, neurology, early intervention team) after a positive screen or red flag
— Surveillance at every well-child visit from birth through adolescence
— Formal screening at 9, 18, and 30 months with a validated general screen (ASQ-3, PEDS, Survey of Wellbeing of Young Children)
— Autism-specific screening at 18 and 24 months (M-CHAT-R/F is standard)
— Maternal depression screen at 1, 2, 4, and 6 month visits — strongly affects child development
— Social determinants and psychosocial screen at every visit
— Parental concern (highest predictive value — never dismiss)
— Loss of previously acquired skills at any age → urgent workup for regression (Rett, Landau-Kleffner, leukodystrophy, ASD regression, neglect)
— Missed milestone in any of the 4 streams: gross motor, fine motor/visual, language, social/cognitive
— Persistent primitive reflexes beyond 6 months
— Hand preference before 18 months (suggests contralateral hemiparesis)
— Prematurity (<32 wk), low birth weight, NICU stay, HIE, IVH
— Prenatal exposures (alcohol, opioids, valproate, infections — TORCH, Zika)
— Lead exposure, iron deficiency, food insecurity, poverty, foster care
— Family history of ASD, intellectual disability, hereditary deafness
Board pearl: A positive screen is not a diagnosis — it mandates simultaneous referral to (1) early intervention/Part C services (birth–3) or school district (3–21), (2) audiology, and (3) developmental specialist, without waiting for one before initiating the others.
— 2 mo: lifts head prone; 4 mo: rolls front→back; 6 mo: sits with support, rolls both ways; 9 mo: sits unsupported, pulls to stand; 12 mo: cruises, first steps; 15 mo: walks well; 18 mo: runs, walks up stairs with hand held; 2 yr: jumps, kicks ball; 3 yr: tricycle, stairs alternating up; 4 yr: hops; 5 yr: skips
— 4 mo: hands to midline; 6 mo: raking grasp, transfers; 9 mo: immature pincer; 12 mo: mature pincer, releases object; 15 mo: scribbles; 18 mo: tower of 2–4; 2 yr: tower of 6, copies line; 3 yr: copies circle, tower of 9; 4 yr: copies cross; 5 yr: copies square/triangle, ties shoes (5–6)
— 2 mo: coos; 6 mo: babbles; 9 mo: "mama/dada" nonspecific; 12 mo: 1–3 words specific, follows 1-step with gesture; 18 mo: 10–25 words, points to body parts; 2 yr: 2-word phrases, 50 words, 50% intelligible to stranger; 3 yr: 3-word sentences, 75% intelligible; 4 yr: 100% intelligible, tells stories
— 2 mo: social smile; 6 mo: stranger anxiety begins; 9 mo: peek-a-boo, separation anxiety; 12 mo: waves, points to share interest (joint attention); 18 mo: pretend play emerges; 2 yr: parallel play; 3 yr: shares, knows gender; 4 yr: cooperative play; 5 yr: has friends, follows rules
— Ask "What can your child do?" rather than "Can your child do X?" — open-ended
— Adjust for prematurity until age 2 (corrected age = chronologic − weeks premature/4)
— Ask about hearing/vision concerns explicitly — undiagnosed sensory deficit is the most reversible cause of "delay"
Step 3 management: A 2-year-old with <50 words and no 2-word phrases = expressive language delay → audiology first, then speech-language evaluation and early intervention referral the same visit.
— Watch the child play in the room before touching them — quality of movement, symmetry, social engagement, eye contact, joint attention, response to name
— Asymmetric movement → cerebral palsy, brachial plexus injury, fracture
— Lack of social referencing or pointing by 18 mo → ASD red flag
— Plot length/height, weight, head circumference through 36 mo (microcephaly → congenital infection, genetic, HIE; macrocephaly → hydrocephalus, neurocutaneous syndrome, benign familial)
— Failure to thrive correlates with cognitive/language delay
— Tone: head lag persisting beyond 4 mo, scissoring of legs, fisting beyond 3 mo, hypotonia (floppy infant)
— Primitive reflexes that must extinguish: Moro (by 6 mo), palmar grasp (by 6 mo), ATNR (by 6 mo), rooting (by 4 mo), Babinski (by 12–24 mo)
— Persistent primitives → upper motor neuron lesion (CP)
— Postural reflexes that appear: parachute by 9 mo (absent → CP concern)
— Café-au-lait, ash-leaf, port-wine, axillary freckling → neurocutaneous (NF1, TS, Sturge-Weber)
— Epicanthal folds, single palmar crease, sandal gap → trisomy 21
— Long face, large ears, macroorchidism (post-puberty) → fragile X
— Smooth philtrum, thin upper lip, small palpebral fissures → FAS
— Red reflex at every well visit (cataract, retinoblastoma)
— Otoacoustic emissions/ABR universal at birth; re-screen if concerns
— Formal vision screen by photoscreener at 12 mo–3 yr, acuity by 4 yr
Key distinction: Hand dominance before 12–18 months is pathologic — suggests weakness of the non-preferred side (hemiplegic CP), not precocity. Always work up.
— ASQ-3 (Ages & Stages Questionnaire): parent-completed, 10–15 min, ages 1 mo–5.5 yr, sensitivity ~85%
— PEDS (Parents' Evaluation of Developmental Status): 10 questions, all ages
— SWYC (Survey of Wellbeing of Young Children): free, includes psychosocial and behavioral
— Administered at 9, 18, 30 months minimum
— M-CHAT-R/F at 18 and 24 months — 20-item parent questionnaire
— Score 0–2 low risk, 3–7 medium (do follow-up interview), 8+ high risk (refer directly)
— Follow-up interview reduces false positives substantially
— Audiology referral for any language delay — do not rely on newborn screen alone (late-onset/acquired hearing loss missed)
— Ophthalmology for any motor/visual concern
— Lead level (universal at 12 and 24 mo in Medicaid-eligible; risk-based otherwise; mandatory in any delay workup)
— Iron studies / CBC (iron deficiency anemia → cognitive delay even without anemia)
— TSH (congenital hypothyroidism — newborn screen catches most but acquired possible)
— Consider CK in boys with motor delay (Duchenne — average dx age 5; should be earlier)
— No babbling by 9 mo, no words by 15 mo, no 2-word phrases by 24 mo, regression of language
CCS pearl: On a CCS case of a 24-month-old with language delay, your initial orders should be: audiology eval, lead level, CBC, TSH, M-CHAT-R/F, ASQ-3, and referral to Early Intervention — all simultaneously on day 0, not sequentially.
— Global developmental delay (delay in ≥2 domains in child <5 yr)
— Dysmorphic features, family history, regression, intellectual disability, autism
— First-tier genetic tests (per ACMG):
— Chromosomal microarray (CMA) — diagnostic yield 15–20%, replaces karyotype as first-line
— Fragile X testing — all children with unexplained ID/DD, especially boys
— Karyotype only if specific aneuploidy suspected (Down, Turner)
— Whole exome sequencing — increasing first-line use, yield ~25–40% in unexplained ID
— MECP2 in girls with regression (Rett)
— PTEN in macrocephaly + ASD
— Metabolic screen (plasma amino acids, urine organic acids, acylcarnitine, ammonia, lactate) if regression, episodic decompensation, consanguinity, hypotonia
— Indications: microcephaly, macrocephaly, focal neurologic findings, seizures, regression, abnormal tone (CP workup)
— Not routine for isolated language or social delay
— MRI preferred over CT (no radiation, better resolution)
— Suspected seizures, regression (rule out Landau-Kleffner — acquired epileptic aphasia), infantile spasms
— Bayley Scales (infants–toddlers), WPPSI/WISC (preschool/school-age IQ), Vineland (adaptive function)
— ADOS-2 and ADI-R for autism diagnosis (gold standard)
— Motor only → CK, MRI brain (CP), spine MRI if leg-predominant
— Language only → hearing, then speech eval
— Social → ASD pathway
— Global → CMA + Fragile X + metabolic + MRI
Board pearl: CMA + Fragile X testing is the standard first-line genetic workup for unexplained global developmental delay/intellectual disability — not karyotype.
— Step 1: Confirm with focused history and exam (don't over-rely on a single score)
— Step 2: Simultaneous referrals — early intervention, audiology, developmental specialist
— Step 3: Initial labs (lead, CBC, TSH) and consider genetic workup based on pattern
— Step 4: Schedule re-screen in 1–3 months; do not "wait and see" indefinitely
— Mild delay (1 domain, <25% below age): monitor closely, EI referral, recheck in 1–2 mo
— Moderate (2+ domains or >25% delay): full workup, EI, specialist
— Severe / regression / red flags: urgent neurology referral, MRI, EEG, metabolic workup
— Birth to 3 years, federally mandated, no cost or sliding scale
— Eligibility: documented delay OR diagnosed condition with high probability of delay (Down syndrome, prematurity <28 wk, hearing loss)
— Family-centered, in-home services
— Physician referral is free, does not require parental insurance, and does not require a confirmed diagnosis
— Transitions to school district services under Part B/IDEA at age 3
— Individualized Education Program (IEP) or 504 plan
— Start transition planning at 2.5 years to avoid service gaps
— Adjust for prematurity until 24 months chronologic
— Bilingual children: language milestones counted across both languages combined; do not advise families to drop home language
Step 3 management: Never delay an EI referral while awaiting diagnostic certainty — the referral itself is therapeutic and time-sensitive (brain plasticity window). On a CCS case, referring to EI before lab results return is the correct sequencing.
— No medication treats developmental delay itself; pharmacotherapy targets comorbid or causative conditions
— Behavioral, educational, and therapy-based interventions are first-line for ASD, ID, and language delay
— Speech-language therapy: articulation, expressive/receptive language, AAC devices
— Occupational therapy: fine motor, sensory integration, ADLs
— Physical therapy: gross motor, gait, CP rehabilitation
— Applied Behavior Analysis (ABA): evidence-based for ASD, 20–40 hr/week intensive
— Floortime/DIR, ESDM, PRT: developmental relationship-based ASD models
— Irritability/aggression/self-injury: risperidone or aripiprazole (only FDA-approved drugs for ASD-associated irritability, ages 5+/6+)
— Monitor: weight, lipids, glucose, prolactin, EPS, metabolic syndrome
— ADHD comorbid with ASD: methylphenidate or atomoxetine (atomoxetine often better tolerated)
— Melatonin for sleep disturbance
— SSRIs for repetitive behaviors/anxiety (limited evidence, use cautiously)
— Congenital hypothyroidism: levothyroxine immediately on positive newborn screen
— PKU: phenylalanine-restricted diet from birth
— Iron deficiency: ferrous sulfate 3–6 mg/kg/day elemental iron
— Lead poisoning ≥45 µg/dL: chelation (succimer); environmental remediation at any level
— Vitamin B12 deficiency in breastfed infants of vegan mothers
— Secretin, hyperbaric oxygen, chelation for autism, stem cells — no evidence, potential harm
— Counsel families away from unproven therapies non-judgmentally
Board pearl: Risperidone and aripiprazole are the only FDA-approved agents for autism-associated irritability — but they do not treat core ASD features. Behavioral therapy remains foundational.
— Most evidence-based intervention for ASD
— Operant conditioning principles: discrete trial training, naturalistic teaching
— Best outcomes when started <3 years, ≥20 hr/week
— Insurance: covered in all 50 states for ASD diagnosis (autism insurance mandates)
— Developmental + behavioral hybrid, 12–48 mo, in-home, parent-mediated
— Improves IQ, language, adaptive behavior
— Articulation therapy for phonologic disorders
— PROMPT for motor speech (apraxia)
— AAC (picture exchange, speech-generating devices) for nonverbal children — does not delay speech development (myth-busting)
— IEP under IDEA — requires documented disability and educational impact
— 504 plan — accommodations for any disability affecting major life activity, broader than IEP
— Least restrictive environment principle: mainstream classroom with supports preferred when possible
— Parent-mediated interventions (Hanen, PCIT) — train caregiver as therapist, high-yield in low-resource settings
— Respite care, sibling support
— Connect to family-to-family networks (Family Voices, ASD Parent Navigator)
— Medical home model — pediatrician coordinates among neurology, genetics, GI, psychiatry, therapies
— Care coordination is a billable service (CPT 99490, complex care management codes)
— SSI eligibility for children with significant disability + low household income
— EI (0–3) → preschool special ed (3–5) → school-age IEP (5–21) → adult services at 22
— Transition planning to adult care should start by age 14, formal by 18
Step 3 management: When asked about most effective intervention for a 2-year-old newly diagnosed with ASD, the answer is intensive early behavioral intervention (ABA or ESDM) ≥20 hr/week — not medication, not vitamins, not diet.
— Correct for gestational age until 24 months chronologic for all milestones and growth
— Example: 4-month-old born at 32 weeks (8 wk early) has corrected age of 2 months — expect 2-month milestones
— Extremely preterm (<28 wk): high-risk follow-up clinic enrollment, formal Bayley at 18–24 mo corrected
— Automatic EI eligibility in most states for <32 wk or <1500 g
— IVH grade III–IV → high CP risk → early PT, monitor tone
— Periventricular leukomalacia → spastic diplegia (classic preterm CP pattern)
— HIE with cooling → 6-month and 18-month neurodevelopmental assessment minimum
— BPD on home oxygen → cognitive and motor delays trend with severity
— Congenital heart disease (especially post-Norwood, transposition): 50% have neurodevelopmental impairment → routine screening at 9, 18, 30 mo + formal eval at 4–5 yr per AHA
— Sickle cell disease: silent cerebral infarcts → annual TCD age 2–16, cognitive screening
— Chronic kidney disease, IBD on long-term steroids → growth and cognitive monitoring
— Echo at birth, hearing q6mo until 3 yr then annually, ophthalmology by 6 mo then annually, TSH at birth/6mo/12mo then annually, cervical spine symptoms screening, CBC annually (leukemia risk)
— Expect milestone delays but plot on Down syndrome–specific growth and milestone curves
— Deaf children: language milestones in sign language count as language acquisition
— Visually impaired: motor milestones delayed but cognition typically normal
Board pearl: A former 28-week preemie at 6 months chronologic age who is not yet rolling is developmentally on track — corrected age is 3 months. Do not over-refer, but do enroll in high-risk follow-up.
— Catch-up growth and development common in first 6–12 months post-placement (1 month catch-up per 3 months in family)
— Screen for: lead, anemia, TB, HIV, hepatitis B/C, syphilis, parasites, vision, hearing, dental
— Developmental screening at intake + 3 mo + 6 mo regardless of age
— Institutional rehoming history → expect language and social delays
— AAP recommends comprehensive evaluation within 30 days of placement, including developmental and mental health
— Higher rates of ACEs, trauma, prenatal substance exposure
— Bright Futures schedule on accelerated cadence
— Chronic adversity disrupts HPA axis, alters brain architecture, impairs executive function
— Buffer = stable, responsive caregiver relationship
— Screen for ACEs, food insecurity, housing instability, IPV at well visits
— Connect to home visiting programs (Nurse-Family Partnership, Healthy Families America)
— Total vocabulary across languages tracks with monolingual peers
— Code-mixing is normal, not a sign of confusion
— Counsel families to continue home language — supports identity, cognition, family communication
— If delay present, evaluate in both languages; delay must be present in both to diagnose
— FAS: smooth philtrum, thin vermilion, short palpebral fissures + growth + CNS dysfunction; lifelong cognitive/behavioral issues
— Opioid exposure: NAS in newborn, later attention and behavioral concerns; long-term cognitive impact less clear-cut
— All warrant developmental surveillance with low threshold for screening
Step 3 management: A newly placed 2-year-old foster child needs a comprehensive medical, dental, developmental, and mental health evaluation within 30 days of placement — this is the AAP standard and a frequent Step 3 question.
— Brain synaptic density peaks ages 0–3; pruning continues to age 5
— Earlier intervention = better outcomes for IQ, language, adaptive function
— Children diagnosed with ASD before 3 yr who receive intensive intervention show greater gains in IQ and adaptive skills than later-diagnosed peers
— Hearing loss missed → permanent language impairment, academic failure
— Amblyopia missed beyond age 7–9 → permanent vision loss
— Congenital hypothyroidism untreated → cretinism, severe ID
— PKU untreated → severe ID, seizures
— Lead exposure → IQ decline, ADHD, conduct issues
— Undiagnosed learning disability → school failure, low self-esteem, depression, conduct disorder
— Undiagnosed ASD → social isolation, anxiety, family stress
— Undiagnosed ADHD → substance use, MVCs, academic underachievement, occupational difficulties
— Parental burnout, marital stress, sibling neglect
— Financial strain; loss of work hours
— Increased risk of child maltreatment in children with disability (3× general population)
— Special education costs, lost productivity, lifetime earnings impact
— IDEA mandates Free Appropriate Public Education (FAPE) — under-identification = legal liability for school district
— Antipsychotics → metabolic syndrome, EPS, hyperprolactinemia
— Unproven therapies (chelation, MMS, hyperbaric) → direct harm
— Stimulants → growth velocity suppression (typically <1 inch lifetime), monitor
Key distinction: "Wait and see" is never the right answer on Step 3 for a positive developmental screen — the cost of unnecessary referral is trivial; the cost of missed intervention window is permanent.
— Loss of previously acquired skills (regression) at any age → neurology + MRI + EEG, consider metabolic workup
— Acute regression with seizures → admit, EEG (Landau-Kleffner, infantile spasms)
— Infantile spasms (West syndrome): clusters of flexor/extensor spasms, hypsarrhythmia on EEG, 3–12 mo onset → urgent — vigabatrin or ACTH, every day of delay worsens outcome
— Suspected ASD <3 years
— Global developmental delay
— Microcephaly or macrocephaly with crossing percentiles
— Suspected CP (asymmetric tone, persistent primitive reflexes, hand preference <12 mo)
— Hearing or vision concerns
— Single-domain delay → speech, OT, or PT
— Behavioral concerns without regression → developmental-behavioral pediatrics
— School-age learning issues → neuropsychology + school evaluation
— Developmental-behavioral pediatrician: ASD/ID diagnosis, complex behavioral
— Child neurologist: seizures, regression, CP, neurogenetics
— Clinical geneticist: dysmorphism, family hx, after CMA/exome
— Child psychiatrist: medication management, severe behavioral
— Audiology / ophthalmology: sensory deficits
— Status epilepticus, severe dehydration in failure to thrive, severe self-injury, acute psychiatric crisis
— Suspected child abuse → child protection team + mandatory report
CCS pearl: A 7-month-old with brief, repetitive flexion spasms and developmental plateau → order EEG STAT (hypsarrhythmia confirms infantile spasms); begin ACTH or vigabatrin; consult neurology; obtain MRI and metabolic workup. This is a time-critical CCS scenario.
— Persistent deficits in social communication + restricted/repetitive behaviors
— Onset early childhood; M-CHAT-R/F screen 18/24 mo; gold standard ADOS-2 + clinical
— Loss of joint attention, no pointing by 18 mo, no response to name
— IQ <70 + adaptive function deficits + onset before 18 yr
— Severity classified by adaptive function (DSM-5), not IQ alone
— Most common identifiable cause: Fragile X (M), Down syndrome overall
— Term for children <5 yr who can't yet have IQ testing reliably
— Delay in ≥2 domains; many go on to meet ID criteria
— Expressive language disorder, receptive-expressive, social pragmatic communication disorder
— Childhood apraxia of speech: motor planning deficit, inconsistent errors
— Stuttering: developmental (2–5 yr, usually self-resolves) vs persistent
— Dyslexia, dyscalculia, dysgraphia
— Average/above-average IQ with specific academic skill deficit
— Identified school-age
— Inattention/hyperactivity/impulsivity in ≥2 settings before age 12
— Often comorbid with learning disorders, ASD, anxiety
— Non-progressive motor disorder from prenatal/perinatal brain injury
— Subtypes: spastic (most common), dyskinetic, ataxic, mixed
— Spastic diplegia: preterm/PVL; hemiplegia: stroke; quadriplegia: severe HIE
— Motor + vocal tics >1 yr, onset before 18 yr
Key distinction: Global developmental delay ≠ intellectual disability — GDD is a provisional term for under-5; ID requires standardized IQ testing typically deferred until ≥5 years for reliability.
— Hearing loss → language and social delay → always audiology first
— Vision impairment → motor and social delay
— Reversible if caught early
— Congenital hypothyroidism (newborn screen)
— PKU and other IEMs
— Mitochondrial disorders — multisystem, lactic acidosis, regression
— Lysosomal storage (Tay-Sachs, MPS) — coarse features, organomegaly, regression
— Down syndrome (T21): hypotonia, flat facies, CHD, brushfield spots
— Fragile X: long face, large ears, macroorchidism, MR most common inherited
— Williams: elfin facies, supravalvular AS, hypercalcemia, "cocktail party" personality
— Angelman: happy demeanor, ataxia, seizures, no speech, maternal 15q11 deletion
— Prader-Willi: hypotonia/poor feeding infancy → hyperphagia/obesity, paternal 15q11
— Rett: girls, regression 6–18 mo, hand-wringing, MECP2
— Tuberous sclerosis: ash-leaf spots, seizures, ASD
— Neurofibromatosis 1: café-au-lait, axillary freckling, learning disabilities
— Cerebral palsy, hydrocephalus, neural tube defects
— Brain tumor (regression + headache/vomiting)
— Seizure disorders impairing learning
— Lead poisoning (mandatory screen)
— Iron deficiency anemia
— Malnutrition / FTT
— Neglect, social deprivation, institutionalization
— In utero exposures: alcohol (FAS), valproate, opioids, tobacco
— Selective mutism (anxiety) vs language delay
— Reactive attachment disorder
— Severe depression in older children → cognitive slowing
Board pearl: A toddler with "language delay" who passed the newborn hearing screen still needs repeat audiology — late-onset/acquired hearing loss (CMV, meningitis, ototoxic drugs) is the leading reversible cause of language delay.
— Pediatrician coordinates: subspecialists, school, therapies, family supports
— Annual review of IEP, therapy progress, medications, adaptive function
— Well visits at minimum AAP cadence — often more frequent
— Re-screen development at each visit using validated tools
— Annual hearing and vision (more often in Down syndrome)
— Behavioral health screen yearly from age 4
— Standard schedule — no contraindication based on developmental delay or ASD
— Reassure families: vaccines do not cause autism (Wakefield study retracted; massive evidence base)
— Influenza and COVID per schedule; HPV at 9–12 yr including children with disabilities
— Safety: car seats (rear-facing until 2+, weight/height limits), helmets, water, gun storage
— Sleep: 12–16 hr infants down to 8–10 hr adolescents; consistent routines especially in ASD
— Screens: <18 mo none except video chat; 18–24 mo high-quality co-viewed; 2–5 yr <1 hr/day; school-age consistent limits
— Nutrition: family meals, avoid grazing, limit sugar-sweetened beverages
— Discipline: positive parenting, time-out 1 min/year of age, no corporal punishment
— Begin planning at age 14
— Guardianship/supported decision-making decisions by 18
— Adult medical home, vocational rehab, Medicaid waiver programs
— Sexual health and consent education adapted to cognitive level
— Treat comorbidities aggressively (obesity in Down syndrome, OSA, constipation in ASD)
— Mental health screening — anxiety and depression highly comorbid in ASD/ID
Step 3 management: Continue routine vaccinations on schedule for children with ASD and developmental delay — no deferral, no spaced-out schedule. This is a frequent counseling question.
— Re-evaluate in 1–3 months after EI referral to assess engagement and progress
— If no improvement and not yet specialist-evaluated, escalate
— Repeat formal screening at next AAP-scheduled interval
— Risperidone/aripiprazole: weight, BMI, BP at each visit; fasting lipids and glucose baseline + q6mo; prolactin if symptomatic; AIMS for EPS
— Stimulants (methylphenidate, amphetamine): height, weight, BP, HR at each visit; appetite, sleep, mood; cardiac screening by history; ECG not routinely required absent risk factors
— Atomoxetine: BP, HR, LFTs if symptoms; suicidality monitoring
— SSRIs: suicidality (black-box pediatric), activation, GI; follow up in 1–2 weeks initially
— Quarterly progress notes from speech/OT/PT
— Reassess goals every 6 months
— IEP reviewed annually, comprehensive re-evaluation every 3 years
— Active listening, normalize emotions (grief, guilt, fear)
— Provide written summaries; many families process slowly
— Connect to disability-specific advocacy (Autism Society, Down Syndrome Society, NAMI, NF Network)
— Pediatrician letter to school documenting diagnosis, accommodations, medications
— Attend or contribute to IEP meetings when possible
— Coordinate medication timing with school nurse
— Screen parents for depression (PHQ-2/9) — caregivers of children with disability have 2× rates
— Address sibling needs (Sibshops, individual time)
— Stigma around developmental disability varies by culture
— Use professional interpreters, not family members
— Adapt counseling to family values and goals
CCS pearl: A child started on risperidone needs baseline weight, fasting glucose, fasting lipids, and prolactin if symptomatic — then weight at every visit and labs every 6 months. Missing metabolic monitoring is a common CCS oversight.
— Parents/legal guardians consent for minors; child assent sought from age 7+
— For genetic testing (CMA, exome): discuss incidental findings, variants of uncertain significance, family implications, insurance protections (GINA covers employment and health insurance but not life/disability insurance)
— Predictive testing for adult-onset conditions in children generally deferred until adulthood
— All physicians are mandated reporters for suspected child abuse/neglect
— Children with developmental disability are at 3× higher risk of maltreatment
— Reasonable suspicion, not proof, triggers report
— Failure to report is a criminal offense in all states
— Document discussion using AAP refusal form
— Continue care relationship; revisit at each visit
— Address specific concerns (MMR-autism myth) with evidence-based counseling
— Mature minor doctrine varies by state; mental health, sexual health, substance use often confidential
— In ID/cognitive impairment, balance autonomy with protection
— Children have legal right to Free Appropriate Public Education in Least Restrictive Environment
— Parents can request IEP evaluation in writing; school must respond within state-specified timeline (typically 60 days)
— Pediatrician advocacy letter is powerful tool
— At age 18, legal adulthood — guardianship petition needed if decision-making capacity impaired; alternatives include supported decision-making, healthcare proxy, durable POA
— Transition from pediatric to adult providers has high gap risk — formal handoff with summary essential
— At age 26, lose dependent insurance coverage — plan Medicaid waiver, SSI, ACA marketplace
— Black and Hispanic children diagnosed with ASD an average of 1–2 years later than white peers — implicit bias in screening interpretation
— Active anti-bias screening practice required
Board pearl: GINA protects against genetic discrimination in health insurance and employment but not life, disability, or long-term care insurance — counsel families before genetic testing.
— Social smile: 2 mo • Rolls: 4–6 mo • Sits unsupported: 6 mo • Pincer grasp: 9 mo • Walks: 12 mo • Runs: 18 mo • Tower of 6: 2 yr • Tricycle: 3 yr • Hops: 4 yr • Skips: 5 yr
— Language: 2-word phrases at 24 mo; 75% intelligible at 3 yr; 100% at 4 yr
— Stranger anxiety: 6–9 mo • Separation anxiety: 9–18 mo peak • Joint attention/pointing: 12–18 mo
— Pretend play: 18 mo • Parallel play: 2 yr • Cooperative play: 4 yr
— General developmental: 9, 18, 30 mo
— Autism-specific (M-CHAT-R/F): 18 and 24 mo
— Lead: 12 and 24 mo (universal Medicaid, risk-based otherwise)
— Hgb for anemia: 12 mo
— Maternal depression: 1, 2, 4, 6 mo
— Vision: red reflex every visit; acuity by 4 yr
— Hearing: newborn ABR/OAE; re-screen any concern
— Lipid: 9–11 yr and 17–21 yr
— Depression (adolescent): annually 12+ yr
— HIV: once between 15–21 yr
— Hand-wringing girl with regression → Rett (MECP2)
— Hyperphagic obese child with hypotonia in infancy → Prader-Willi
— Happy ataxic child with seizures → Angelman
— Cocktail party + supravalvular AS → Williams
— Long face, large ears, large testes, ID → Fragile X
— Ash-leaf macules + seizures → Tuberous sclerosis
— Port-wine + seizures + glaucoma → Sturge-Weber
— Café-au-lait + axillary freckling → NF1
— Hand preference <12 mo • No babbling 9 mo • No words 16 mo • No 2-word phrase 24 mo • Regression at any age • Persistent Moro >6 mo
— CMA + Fragile X (+ exome increasingly)
— Lead, TSH, CBC
— MRI if abnormal exam or regression
Key distinction: "Stranger anxiety" begins 6–9 months; "separation anxiety" peaks 9–18 months. These are normal — pathologic only if severe and prolonged.
— 24-mo with <10 words, no 2-word phrases, normal hearing screen at birth
— Wrong answers: reassure, recheck in 6 months
— Right answer: refer to audiology, early intervention, and speech-language eval simultaneously
— 9-mo chronologic, born at 28 wk, not yet sitting unsupported
— Calculate corrected age = 9 − 3 = 6 mo
— At 6 mo, sitting with support is the milestone → on track
— 18-mo: no pointing, no response to name, lines up toys, no pretend play
— Next step: M-CHAT-R/F + audiology + developmental-behavioral pediatrics referral
— 18-mo girl, previously walking and saying words, now hand-wringing and not speaking
— Diagnosis: Rett syndrome — test MECP2
— 10-mo right hand preference, decreased left arm use, fisted left hand
— Diagnosis: hemiplegic cerebral palsy — MRI brain, refer neurology and PT
— 6-mo with clusters of flexor jerks on awakening, developmental plateau
— Order EEG (hypsarrhythmia) → vigabatrin or ACTH
— Parent of 12-mo asks to delay MMR fearing autism
— Right answer: review evidence, address concerns, continue care, encourage on-schedule vaccination
— Newly placed 3-yr-old
— Right answer: comprehensive medical/dental/developmental/mental health evaluation within 30 days
— 4-yr with delays in all domains, mildly dysmorphic, family history
— Order: CMA + Fragile X testing as first-line genetics
— 8-yr struggling to read despite average IQ
— Right answer: request psychoeducational evaluation for IEP through school district
Step 3 management: When the stem describes a positive screen, the most-frequently-right next step on Step 3 is simultaneous referral to early intervention + audiology + specialist, not a confirmatory test alone.
Developmental surveillance happens at every well-child visit, formal screening occurs at 9/18/30 months (with autism-specific M-CHAT-R/F at 18 and 24 months), and any positive screen or red flag mandates simultaneous referral to early intervention, audiology, and a developmental specialist — never "wait and see."
— Screen ages: general dev at 9, 18, 30 mo; ASD at 18 and 24 mo; lead at 12 and 24 mo; maternal depression at 1, 2, 4, 6 mo; vision/hearing at every visit
— Red flag triad to memorize: no babbling by 9 mo, no words by 16 mo, no 2-word phrases by 24 mo, regression at any age, hand preference before 12 mo
— First-line workup for unexplained global delay: chromosomal microarray + Fragile X testing (replaces karyotype), plus lead/TSH/CBC, plus MRI if focal findings or regression
— Intervention priority: Early Intervention (Part C, birth–3) and then school-based services (Part B, 3–21) under IDEA — referral is free, requires no diagnosis, and is therapeutic in itself
— Hearing loss, vision impairment, hypothyroidism, PKU, lead poisoning, iron deficiency, neglect
— Continue routine vaccinations on schedule — vaccines do not cause autism
— Continue home language in bilingual households
— Correct for prematurity until 24 months chronologic
— Connect families to support networks and the medical home model
Board pearl: On Step 3, the single most common right answer for any developmental concern stem is "refer to early intervention now" — the referral does not require a diagnosis, costs the family nothing, and is the highest-yield therapeutic action a pediatrician can take.