Table 6.

Detailed approaches to management and therapy for RTT: development, education, therapies, social and alternative medications

System/area	Common concerns and questions	Details and suggested approach	References
Development, education and therapies	Developmental milestones	Developmental regression (reduced hand use and language) typically stops between 2 and 3 years. Skills can be maintained and possibly regained with vigorous therapies. Therapies to consider: speech therapy, feeding therapy, occupational therapy, augmentative communication therapy, vision therapy, hippotherapy (horse) and swim/pool therapy.	43 44 48 104 118
	IEP and therapy challenges	Educators may not have experience with RTT. Request they focus on communication, mobility and socialisation with attention to apraxia. Educators and therapists need to be informed that the approach to therapy in RTT is different: it is about maintaining skills as well as recovery. Therapies for RTT should include occupational, physical, speech, swallowing and augmentative communication. Therapy that maximises physical activities should be lifelong, as these will minimise long-term complications and maximise long-term potentials. Educational opportunities that provide intensive physical, occupational and speech therapy, especially those that provide augmentative communication, allow individuals to learn and make the best progress. If CVI is present, then a teacher of the visually impaired should be included in the IEP. These essential accommodations to facilitate education are in accordance with disability rights legislation enacted in many countries throughout the world as required by the United Nations (UN) Convention on the Rights of Persons with Disabilities. This international treaty signed by nearly all 193 UN Member States defines access to an inclusive, quality and free education as a basic human right of individuals with disabilities. Families should work with schools to develop an IEP that recognises this; referral to a Rett specialist may provide additional assistance in this regard.	43 44
	Non-verbal communication	Alternative and augmentative communication assessments are needed. While this can be done by some speech therapists, a specific referral may be needed. Since eye gaze is typically the most effective form of communication, special eye gaze devices can give individuals a voice. These referrals should be made as early as possible to coincide with typical language development. Devices should be made available to individuals both at home and school. Home use is to be encouraged as this setting may be the longest after the child graduates from the school system.	43 104
Social concerns	Increased family stress	Family may need respite care. Sibling reactions and their adjustment should be considered; families could provide education for extended family and friends to understand RTT through patient advocacy group websites. When appropriate, discussion of Rett genetics with older siblings of childbearing age should be considered by referral to a genetic counsellor.	35 36 119 120
Alternative medications	Cannabis, St John’s wort and so on	Families should be encouraged to disclose use of alternative medications (cannabis, oils and so on) to all specialists.

CVI, cortical visual impairment; IEP, individualised education programme; RTT, Rett syndrome.