Age of Diagnosis – Medical Evaluations

Initial genetic confirmation of Angelman syndrome, neurological evaluation, developmental and behavioural assessment, sleep and feeding history.

Age of Diagnosis – Anticipatory Guidelines

Address parent concerns and questions, begin early intervention planning, guidance on safety (seizures, feeding), introduction to AS-specific resources and supports.

Age of Diagnosis – Medical Referrals

Genetic counsellor, paediatric neurologist, early intervention team, speech/occupational/physical therapists, sleep clinic or feeding specialist as needed.

Age of Diagnosis – Labs

Genetic confirmation already done, otherwise minimal routine blood work unless clinically indicated.

Age of Diagnosis – Diagnostics

EEG (if seizures present or suspected), developmental assessments, hearing/vision screening, sleep study if symptoms warrant.

Age of Diagnosis – Medication/Supplements

As needed for seizures, reflux, constipation, sleep. Multivitamin or feeding support if undernourished or poor intake.

1–5 Years – Medical Evaluations

Monitor seizure onset/management, developmental and communication milestones, growth and feeding issues, sleep quality, motor function, and early scoliosis signs.*

* Considerations for 3–5yrs

1–5 Years – Anticipatory Guidelines

Transition from early intervention to preschool/school-based supports, toilet training readiness, managing behaviour, safety planning, promoting socialisation.*

* Considerations for 3–5yrs

1–5 Years – Medical Referrals

Developmental paediatrician, neurologist, audiology, physiotherapist, occupational therapist, speech pathologist, ophthalmologist.*

* Considerations for 3–5yrs

1–5 Years – Labs

Anticonvulsant levels if treated, iron and vitamin D status, general health screen as indicated.*

* Considerations for 3–5yrs

1–5 Years – Diagnostics

EEG if seizures suspected or changing, hip X-rays for mobility, scoliosis checks, vision/hearing screening.*

* Considerations for 3–5yrs

1–5 Years – Medication/Supplements

Seizure meds if needed, melatonin or sleep aids, laxatives, reflux treatment, nutritional supplements if growth/fussy feeding.*

* Considerations for 3–5yrs

5–13 Years – Medical Evaluations

Monitor seizures, sleep, motor coordination, feeding/swallowing changes, scoliosis progression, behaviour and mood changes.

5–13 Years – Anticipatory Guidelines

Support school transitions and IEPs, toilet skill mastery, address puberty onset and emotional changes, maintain safety planning, encourage community participation.

5–13 Years – Medical Referrals

Neurologist, orthopaedic specialist for scoliosis, allied health team for therapy continuation, dentist, nutritionist or feeding team.

5–13 Years – Labs

Medication monitoring if applicable, check iron, vitamin D, thyroid if concerns, annual health screen.

5–13 Years – Diagnostics

Scoliosis X-rays, hip/pelvis imaging, EEG if seizures not controlled, hearing/vision tests if changes noticed, bone health if non-ambulant.

5–13 Years – Medication/Supplements

Seizure meds, sleep aids, behavioural meds if required, laxatives, supplements for nutrition/bone health.

13–21 Years – Medical Evaluations

Review of long-term epilepsy and movement disorder management, sleep quality and behaviour support, puberty progress and menstrual care, risk assessments for transitions (school to adult services), ongoing communication and motor skill reviews.

13–21 Years – Anticipatory Guidelines

Support for independence and adult transition planning, discussions around consent and relationships, managing puberty changes and menstrual care, emerging behaviour or mood concerns, monitoring scoliosis progression and bone health.

13–21 Years – Medical Referrals

Adult neurologist or transition specialist, mental health professionals, gynaecology/urology for puberty or menstrual issues, behaviour therapist, allied health for ongoing therapy, vocational or disability support planners.

13–21 Years – Labs

Review anticonvulsant levels and effects, thyroid and vitamin D checks, screen for nutritional deficiencies, metabolic screening if clinical change, bone density assessments as needed.

13–21 Years – Diagnostics

Spinal imaging if scoliosis concerns, EEG if seizures change, DEXA for bone health, repeat sleep study if new concerns arise, hearing/vision reassessment if not recently reviewed.

13–21 Years – Medication/Supplements

Continue anticonvulsants or revise regimen, menstrual suppression if required, behavioural medication if indicated, supplements for bone health, vitamin and mineral adequacy.

Adult – Medical Evaluations

Annual health checks including seizure management, mobility changes, pain, nutritional status, sleep quality, swallowing concerns, behaviour, and mood. Review of communication and participation goals.

Adult – Anticipatory Guidelines

Address ageing-related health decline, support communication evolution, anticipate pain sources, promote inclusion and participation, advance care planning discussions as needed.

Adult – Medical Referrals

GP, neurologist or specialist physician, dietitian, speech and occupational therapists, behaviour support, mental health practitioners, disability or aged care support services.

Adult – Labs

Annual metabolic panel, vitamin D, thyroid, iron levels. Monitor anticonvulsant or sedative medications. Bone health screening for those with low mobility or long-term therapy.

Adult – Diagnostics

Consider repeat EEG if change in seizure pattern, swallowing assessments, bone density tests, X-rays for pain/mobility concerns, hearing/vision review if function declines.

Adult – Medication/Supplements

Ongoing seizure medications, stool softeners or sleep aids, behavioural medication review, ensure nutritional supplements for bone and general health as needed.