Developmental Evaluation

Aka: Developmental Evaluation, Developmental Exam, Developmental Screening, Developmental Delay, Developmental Disability, Developmental Disorder

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II. Epidemiology

  1. Prevalence Developmental Delay in U.S.: 9% of those ages 3-17 years old
    1. Speech Delay or Language Delay: 9% Prevalence
    2. Learning Disorder: 8% Prevalence
    3. Autism Spectrum Disorder: 3%
    4. Intellectual Disability: Up to 1.5% Prevalence
  2. Gender
    1. Males are 4 fold more likely to have Developmental Disorders or Autism Spectrum Disorders
    2. Girls reach most specific Developmental Milestones earlier than boys
      1. Milestones may underdiagnose girls with Developmental Disorders at a specific age, delaying diagnosis

III. Precautions

  1. Early intervention for Developmental Delay is associated with the best outcomes
    1. However, only 3% of all children received early intervention by age 3 years old (2014, U.S.)
    2. Public interventions for Developmental Delay peaks at ages 9-12 years old (12.5% of children)
  2. Parental concern alone may be insufficient screening
    1. Parental concern alone misses half of children identified with standardized screening tools
  3. However, screening recommendations varies
    1. Only AAP recommends routine screening in asymptomatic children (at every WCC, esp. 9, 18, 24-30 and 48 months)
    2. USPTF and AAFP recommend screening in symptomatic children (e.g. parental concern)

IV. Indications: Screening

  1. Periodic universal Developmental Screening in all children (per AAP)
    1. Timing
      1. General Developmental Screening at ages 9, 18 and 30 months (ASQ-3, DDST-2, PEDS, SWYC)
      2. Autism spectrum disorder screening at 18 and 24 months (M-CHAT-R/F, ASQ-3, PEDS, SWYC)
    2. CDC/AAP modified some expected milestones from the 50th to 75th percentile in 2022
    3. Focused Developmental Screening at all Well Child Visits is also recommended by AAP
      1. Monitoring of growth
      2. Focused developmental history
      3. Direct child observation
      4. Address parental concerns related to development
  2. High risk for Disability
    1. Low income family
    2. Parents with limited education (esp. in mother)
    3. Parents with mental health concerns (e.g. Postpartum Depression)
    4. Single parent family
    5. Numerous siblings
    6. Parental unemployment
    7. Lack of parental concerns
  3. Perinatal risk factors (esp. preterm delivery)
    1. Preterm delivery is associated with Developmental Disorders
    2. Early occupational and physical therapy after neonatal discharge improves cognitive and motor outcomes
      1. Spittle (2015) Cochrane Database Syst Rev 2015(11):CD005495 +PMID: 26597166 [PubMed]

V. Approach: Survey Parental Concerns

  1. See Muscle Weakness in Children
  2. See Clumsiness in Children
  3. See Speech and Language Disorders in Children
  4. Use standardized questionnaire (preferred for primary care)
    1. Example: Ages and Stages Questionnaire (ASQ) for age 4-60 months
    2. See Tools below for preferred options (ASQ, CDR/IDI or PEDS)
  5. Use Clinician Trigger Question (Glascoe)
    1. Ask Parent "Please tell me any concerns you have:"
      1. Learning
      2. Developing
      3. Behaving
  6. Developmental Screening Tests for parental concerns
    1. Behavior (35%)
    2. Speech and Language (30%)
    3. Gross motor (less common)
    4. Fine motor
      1. Often reflects true developmental problems
    5. Global concerns
      1. Needs screening!

VI. Tools

  1. See Developmental Milestone
  2. See Developmental Red Flags
  3. See Language Milestone Red Flags
  4. Developmental Screening Tests ("Does a problem exist?")
    1. Preferred Options (per AAP, one of the following tests is performed at 9, 18, 24-30 and 48 months)
      1. Ages and Stages Questionnaire (ASQ): 4-60 months (10 parent completed questions)
      2. Infant Development Inventory (IDI): 0-18 months
      3. Child Development Review (CDR): 18-60 months
      4. Parent's Evaluations of Developmental Status (PEDS): 0-8 years (10 parent completed questions)
      5. Survey of Well Being of Young Children (SWYC): 1 to 66 months
    2. Other options
      1. Battelle Developmental Inventory
      2. Bayley Infant Neurodevelopmental Screen
      3. Brigance Screen
      4. CAT/CLAMS
      5. Denver Developmental Screening Test II (DDST2, not recommended due to low efficacy)
      6. Minnesota Child Developmental Inventory (replaced by CDR and IDI)
  5. Autism Screening (per AAP performed at 18 and 24 months)
    1. Modified Checklist for Autism in Toddlers (M-CHAT-R/F, free for primary care use)
      1. http://mchatscreen.com/wp-content/uploads/2015/09/M-CHAT-R_F.pdf
    2. Other tools
      1. Pervasive Developmental Disorders Screening (PDDST)
      2. Autism Screening Questionnaire
      3. Australian Scale for Asperger Syndrome
  6. Developmental Assessment Tools (Extensive diagnosis tools, performed by specialists, indicated in abnormal screening)
    1. Autism spectrum disorder diagnostics tools
      1. Bayley Scales of Infant and Toddler Development (4th ed)
      2. Autism Diagnostic Observation Schedule (2nd ed)
    2. Young children under age 3 years: Cognitive Test
      1. Bayley II Developmental Assessment
      2. McCarthy Scales of Children's Ability
    3. Children 3 years and older: Intelligence Testing
      1. Stanford-Binet Intelligence Scale
      2. Wechsler Intelligence Scale
  7. Behavioral Screening
    1. Eyberg Child Behavior Inventory
    2. Family Psychosocial Screening
    3. Pediatric Symptom Checklist
  8. Broad-based testing
    1. Survey of Wellbeing of Young Children (SWYC)
  9. Other Tests
    1. Language and communication
      1. Sequenced Inventory Communication Development
        1. Abbreviation: SICD
        2. Used in 4-48 months
    2. Adaptive and social Functioning
      1. Vineland Adaptive Behavior Scales
        1. Used in birth to 18 years

VII. Labs: Positive Screening

  1. Review Universal Newborn Screening Results
    1. See Inborn Errors of Metabolism
    2. Routine, but variable panels per state in U.S. performed on all newborns
  2. Gross Motor Delay
    1. Creatine Phosphokinase (CK)
    2. Thyroid Stimulating Hormone
  3. Global Developmental Delay
    1. Fragile X Syndrome testing (males)
  4. Genetic Testing in Idiopathic Developmental Delay
    1. See Genetic Syndrome
    2. Indications (highest yield)
      1. Intellectual Disability
      2. Autism Spectrum Disorder (ASD)
      3. Global Developmental Delay
    3. Testing options
      1. Chromosomal microarray testing (Test Sensitivity 15-20%)
      2. Exome Sequencing (Test Sensitivity 30-43%)
    4. Management of positive Genetic Testing
      1. Referral to medical Genetics (either for initial testing, or for management of positive tests)
    5. Positive Genetic Testing (e.g. identified microdeletions) may yield specific specialty management
      1. Cardiology
      2. Endocrinology
      3. Muscular Dystrophy specialists

VIII. Management: Positive Screening

  1. See Autism Spectrum Disorder
  2. See Pediatric Neuromuscular Disorder
  3. See Developmental Coordination Disorder
  4. See Speech and Language Disorders in Children
  5. Positive Screening Tests should prompt evaluation and treatment
    1. U.S. Federal Law mandates education and support for children with disabilities
  6. Primary referrals
    1. Age <3 years
      1. State Early Intervention Programs (in U.S., IDEA-Part C)
    2. Age >=3 years
      1. School-district based program evaluation
      2. Individualized Education Program (IEP, IDEA-Part B)
  7. Other specialty referrals as needed
    1. Developmental-Behavioral Pediatrics
    2. Neurology
    3. Psychology
    4. Medical Genetics
    5. Autism Spectrum Disorder (ASD) Centers
  8. Specific services are based on age and condition
    1. Occupational therapy
    2. Physical therapy
    3. Speech and language therapy

IX. Resources

  1. Healthcare Provider Intervention Guidelines (CDC)
    1. https://www.cdc.gov/ncbddd/actearly/hcp/index.html
  2. U.S. Early Intervention Programs by State (CDC)
    1. https://www.cdc.gov/ncbddd/actearly/parents/state-text.html
  3. Developmental Disabilities (CDC)
    1. https://www.cdc.gov/ncbddd/developmentaldisabilities/
  4. Bright Futures Developmental Screening
    1. https://brightfutures.aap.org/materials-and-tools/tool-and-resource-kit/Pages/Developmental-Behavioral-Psychosocial-Screening-and-Assessment-Forms.aspx

X. References

  1. Koopman (2025) Am Fam Physician 112(1): 55-61 [PubMed]
  2. Hamilton (2006) J Fam Pract 55(5): 415-22 [PubMed]
  3. Glascoe (2005) Ment Retard Dev Disabil Res Rev 11(3): 173-9 [PubMed]
  4. Mackrides (2011) Am Fam Physician 84(5): 544-9 [PubMed]
  5. Rydz (2005) J Child Neurol 20(1): 4-21 [PubMed]
  6. Vitrikas (2017) Am Fam Physician 96(1): 36-43 [PubMed]

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