Table 4.

Detailed approaches to management and therapy for RTT: orthopaedics, rehabilitation, skin, endocrine and hospitalisation

System/area	Common concerns and questions	Details and suggested approach	References
Orthopaedics, rehabilitation	Scoliosis	Increased risk of neuromuscular scoliosis after age 6; risk typically abates after puberty. This can progress rapidly if present, necessitating reobservation every 6 months if present. Supine X-ray and orthopaedic referral when scoliotic curvature greater than 20°; correction may be indicated when greater than 40°. Kyphosis is more common in ambulatory individuals.	65 99–102
	Increased risk of hip subluxation	Examine hip range of motion due to high risk for hip subluxation and contractures, as either may be source of pain and cause for irritability. X-ray anterior-posterior views of pelvis may be needed to evaluate femoral head coverage.	103
	Contractures	Encourage families and caregivers to inspect all joints and practise daily range of motion, especially if mobility is reduced in an acute setting (illness or hospitalisation). Consider occupational therapy (OT) and physical therapy (PT) consults for bracing and splinting. Consider neurology and physiatry consults for neuromuscular blockade or other medications to improve tone.	104 105
	Osteopaenia and fractures	There is higher risk of fracture due to immobility and use of anticonvulsants. If fracture occurs, consider bone density (DEXA) scan and referral to endocrine specialist (in addition to aggressive screen of calcium, vitamin D intake and 25-OH vitamin D levels). Cause for fractures beyond osteopaenia needs investigation in order to eliminate other preventable causes, such as falling out of bed (needs rails), falling at home (needs assessment of home) or non-accidental trauma.	77–81 95 97 106 107
	Equipment	There is risk of injury due to outgrown equipment (see ‘Skin’). Family and caregivers may need lifts, shower accommodations, bedside toilets and so on; these needs may be best assessed by a physiatry referral.	See: 108
Skin	Breakdown from mouthing or equipment or lack of repositioning	Redness persisting longer than 20 min after equipment (such as a splint) is removed is of concern for development of pressure ulcers; return to PT to refit equipment. OT or PT may prescribe splints on elbows or hands to prevent skin breakdown from mouthing. Decubitus ulcer may need consultation with wound specialist and equipment specialist.	105
Endocrinology, gynaecology	Premature adrenarche	Menarche comes later, but breast buds and pubic hair may begin earlier than in typically developing children. Periods may be irregular due to low body weight or stress; T4 and TSH should be checked if periods are irregular. Counsel family to notice whether or not seizure frequency corresponds with menstrual cycle and alert neurologist. Consideration of menses suppression should be considered, especially if it disrupts the interactions with caregivers and family or hormonal fluctuations correspond with increased seizure activity. The impact of menses suppression on bone health should be considered; intrauterine device is a consideration. Avoidance of Depo-Provera is a consideration. Well-woman examination should include breast examination.	66 109 See: 110
Hospitalisation	Anaesthesia sensitivity, impaired proprioception	Individuals may be more sensitive to effects of anaesthetics. They may take longer to awaken from anaesthesia. It is important to ensure anaesthesiologist is aware of current medications (especially anticonvulsants and cannabis preparations), type and description of seizures, breathing abnormalities, and risk of presence of prolonged QTc; a recent ECG is essential. Hospital needs to be aware of impaired proprioception, lack of hand use, inability to change position and increased fall risk. If hospitalised, family or hospital should perform daily range of motion to prevent contractures.	49–51 57–59 62 63

References not specific to RTT noted as ’See’.

OT, occupational therapy; RTT, Rett syndrome.