This page is based on the publication A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome , published in Molecular Genetics & Genomic Medicine in February 2022. The content is provided for informational purposes only and is intended as a general guide. It does not constitute medical advice. Please consult with qualified healthcare professionals for individual medical care and recommendations.
An interactive version of this content is also available, allowing users to explore the consensus-based information by age group. This tool provides general information only and should not replace advice from registered health practitioners.
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.
