Box 1.

Key points in history and physical examination

History
Family history

  • Parental consanguinity

  • Family history of GDD/ID

Antenatal history

  • IVF conception

  • Twinning

  • Maternal illness and/or drug intake

  • Maternal alcohol intake

  • Fetal scan findings

Birth history

  • Prematurity

  • Growth parameters at birth

  • Birth injury

  • Birth asphyxia

Neonatal history

  • Hypoxic-ischaemic injury/seizures

  • Prematurity-related complications

  • Jaundice

  • Congenital abnormalities

  • Hypotonia

Postnatal history

  • Developmental milestones

  • Seizures/epilepsy

  • Other neurological problems

  • Eye problems

  • Hearing problems

  • Behavioural concerns

  • Progress at school

  • Educational support (statement, education and health care plan)

  • Skin problems

  • Feeding and eating problems

  • Postnatal growth

  • Bowel problems

  • Urinary problems

  • Sleeping pattern

  • Medications

  • Hospital admissions

  • Childhood immunisations

Physical examination
Growth parameters

  • Weight

  • Height

  • Head circumference

  • BMI

Head-to-toe examination

  • Skull

  • Facial dysmorphism

  • Eyes

  • Ears

  • Teeth

  • Palate

  • Hands, fingers, nails and palmar creases

  • Pigmentary skin changes and hypertrichosis

  • Nipples

  • Sternum

  • Heart and femoral pulses

  • Abdomen (including umbilicus and inguinal areas)

  • External genitalia

  • Anal opening

  • Spine

  • Patellae

  • Feet, toes, nails and plantar creases

  • Joint hypermobility

  • Power, tone, deep-tendon reflexes, plantar reflexes, gait

  • BMI = body mass index; GDD = global development delay; ID = intellectual disability; IVF = in vitro fertilisation