Developmental Delay/Intellectual Disability — History and Physical Examination — Clinical Pathway: Primary Care

Developmental Delay/Intellectual Disability Diagnostic Evaluation Clinical Pathway — Primary Care

History and Physical Examination

Appropriate history and physical examination will help guide the evaluation process of children with DD/ID.

Many genetic and metabolic disorders are associated with multisystem involvement. Some of these features may evolve or improve over time. Therefore, past medical history and frequent assessment are important elements of care.

A three-generation family history with particular attention to neurodevelopmental disorders or other concerning conditions is a valuable part of the evaluation and would help to identify the mode of inheritance. However, the clinical phenotype of inherited disorders may vary within a family.

History

History
  • Growth
    • Failure to thrive
    • Poor feeding, recurrent episodes of vomiting, dietary preferences (protein aversion)
  • Neurologic/Behavioral
    • Vision loss, retinopathy, cataract
    • Deafness
    • Seizure, ataxia, abnormal movements
    • Developmental regression or arrest
    • Regression following intercurrent illness
    • Hyperactivity
    • Destructive behavior, lack of fear, irritability, self-mutilation or aggression
  • Sleep
    • Snoring, daytime somnolence/sleeping, obstructive sleep apnea
    • Insomnia, waking up during the night, early morning awakenings
PMH
  • Frequent episodes of hypoglycemia
  • Episodes of lactic or metabolic acidosis, hyperammonemia
Perinatal History
  • Intrauterine growth restriction
  • Congenital organ defects
  • Newborn screen not performed or child was not born in U.S.
Family History
  • Three-generation family history (Including siblings, parents, grandparents, aunts, uncles, and cousins)
    • Consanguinity
    • Sudden infant death or unexplained neonatal death
    • Frequent spontaneous abortions
    • Birth defects
    • Developmental delay or intellectual disability
    • Epilepsy
    • Autism
    • Known genetic or metabolic disorder

Physical Exam

Growth Parameters
  • Short or tall stature
  • Microcephaly or macrocephaly
General
Behavioral Observation
  • Poor social engagement with examiner/parents, poor eye contact
  • Hyperactivity, impulsivity
  • Aggression, self-injurious behavior
  • Stereotyped behavior
Neurological
  • Mental status concern
  • Cranial nerve abnormality, including eye movements and facial movements
  • Any weakness or asymmetric strength
  • Abnormal tone (hypotonia, hypertonia, spasticity)
  • Abnormal movements
  • Lack of motor coordination
  • Abnormal or asymmetric reflexes
  • Abnormal gait
Musculoskeletal
  • Limb contracture
  • Limb anomalies   such as polydactyly, syndactyly, split hand/split foot (ectrodactyly)
  • Low muscle mass
  • Joint stiffness or limited range of motion
Skin/Connective Tissue
  • Hirsutism
  • Cutis laxa
  • Inverted nipples, widely spaced nipples
  • Abnormal fat distribution
  • Cutaneous hyper or hypopigmentation
Abdominal
  • Hepatomegaly
  • Splenomegaly
  • Hernia (abdominal wall, umbilical, inguinal)
GU
  • Inguinal hernia
  • Ambiguous genitalia
  • Hypospadias
  • Cryptorchidism