Table 1

Health supervision guidance as a checklist for individuals and primary care providers (PCP)

Individuals with Rett syndrome should be seen for regular wellness check-ups, screenings and immunisations (especially influenza vaccinations)*. Inform staff that extra time will be needed for visit, especially for inspecting the individual without braces, shoes and outer clothing. Parents and caregivers should keep a binder of health records to include genetic testing results, summaries of all doctor visits (including specialist referrals), summaries of hospital admissions, laboratory studies, ECG, X-ray reports and other imaging results.
Areas of assessment	Assessment details	Yearly wellness visit	Primary care every 6 months*	Baseline
Genetics/MECP2 testing results	Counsel family on genetic test results and refer to genetic counsellor if appropriate for additional counsel or explanation. Family and PCP to keep a copy of genetic results.			√
General	Update current medications and allergies.	At every visit
	Weight.	At every visit
	Height or body length. Body mass index.	At very visit At every visit
	Head circumference†.	At every visit
	Tanner stage.	At yearly wellness
	Laboratory evaluations (see below).	See below
Gastrointestinal	Review: feeding methods, appetite, chewing ability, choking and length of feeding time.	√	√
Gastrointestinal	Screen for gastro-oesophageal reflux, gas bloating, biliary tract disease, constipation and haemorrhoids, skin tags, or fissures.	√	√
Nutrition	Review nutritional and herbal supplements. Nutrition screening‡: energy, protein, fluids, sodium, potassium, calcium and vitamin D intake. Consider nutrition-related laboratory screening (yearly): complete blood count, electrolyte panel, 25-OH vitamin D, fasting lipids.	√	√
Respiratory	Screen for awake disordered breathing (hyperventilating, breath-holding, colour change) and air swallowing.	√
Neurology	Screen for presence of paroxysmal events (seizures or non-epileptic spells suspicious for seizures). Advise caregivers to keep a log with description of distinct event types and frequency. Refer to neurology if an event occurs repeatedly for diagnostic clarification. Encourage follow-up with neurologist routinely; every 6 months if treated for seizures. If the individual’s weight fluctuates (more than 10%–20%), request the neurologist to consider adjusting anticonvulsant doses accordingly. Laboratory follow-up as needed for use of antiseizure medications.	√	√	√
Neurology	Screen for abnormal movements (stereotypies and dystonia) and level of impact on daily activities.	√		√
Cardiology	12-lead ECG to screen for prolonged QTc interval; if abnormal, refer to cardiology.	√		√
Skin	Document temperature and colour of hands and feet. Screen for skin breakdown from hand mouthing or ill-fitting braces. Screen for pressure ulcers.	√	√
Orthopaedics rehabilitation	Estimate curvature of spine. Recheck every 6 months if scoliosis present; refer to orthopaedics if >20°.	√	(if scoliosis present √)
	Screen for abnormal hip abduction, range of motion and leg length.	√	√
	Screen for contractures and use or need of devices to prevent them (ankle-foot orthoses and splints).	√
	Discuss risk of fractures due to osteopaenia.	√
	Screen for needs and use of mobility aids.	√
Urology	Review toilet training, frequency and infrequency of urination, and urinary tract infections. Refer to urology for frequent urinary tract infections or urinary retention. Consider urology-related laboratory screening (every 2 years): urinalysis.	√
Development	Documentation of baseline, gains and losses of milestones. Fine motor: hand use: raking grasp, pincer grasp, rake, holding cup or spoon. Gross motor: sitting, standing and walking. Language: coo, babble, laugh, words.	√		√
Communication	Screen communication methods used by family and school: eye pointing, vocalisations, switches, iPad, eye gaze device.	√		√
Behavioural	Screen for symptoms of anxiety and depression, such as withdrawal, screaming and irritability. Enquire about sensory processing difficulties.	√	√	√
Sleep	Review sleep initiation, staying asleep, snoring or coughing, and frequency of nocturnal interventions by caregivers. Review safety of bed and bedroom. Consider laboratory evaluation for iron deficiency if concerns arise about disrupted sleep or restless leg syndrome: ferritin, serum iron, total iron binding capacity, transferrin.	√	√	√
Pain	Discuss delayed pain response and describe the individual’s response to pain.	√
Extremities	Temperature dysregulation. Review environmental factors that might impact comfort.	√
Screenings	Screen for vision concerns and consider referral for formal vision assessment, including acuity, spatial, depth, visual fields and cortical visual impairment.	√
	Review newborn ABR results at baseline, consider repeating ABR if history of chronic otitis media, consider evaluation for auditory processing delay.	√		√
	Annual dental health screening; refer for cleaning every 6 months.	√
Education/therapies	Review for presence of current educational plan (see information on RettSyndrome.org). Documentation of therapies (type and frequency).	√		√
Family/social	Assess for family stress (financial, social, fatigue).	√	√	√
Resources	Review available community and insurance resources (disabled parking permit, respite care and so on). In adolescent individuals review plans for obtaining guardianship. Clinician may be required to write letters of medical necessity for equipment and sign school medication forms.	√

*6-month follow-up visit is medically necessary to screen for issues that can appear quickly, progress rapidly and require intervention.
†Please see Centers for Disease Control and Prevention or Nellhaus head circumference chart for age 0–18 years.
‡Please see Food and Drink Log (https://www.rettsyndrome.org/pcg) to ensure adequate calcium, vitamin D, energy and fluid intake.
ABR, auditory brainstem response; IEP, individualised education programme.