Rare Diseases Common in Paediatrics, Primary and Perspective: Rett Syndrome

Background: Clinicians should make the diagnosis of rare genetic disorder - Rett syndrome (RS). In more than 90% of cases mutations in the gene MECP2 are responsible, mutations in the genes CDKL5 and FOXG1 have also been found. Primary care paediatricians (PCP) should be able to recognize the early signs of RS.

Objective: To raise the awareness of RS among PCP, and to present subtle developmental deviations and early indicators in female infants below 12 months of age, predominantly presenting by loss of acquired skills, motor milestone regress, deceleration of the rate of head growth, wringing and repetitive stereotyped hand movements, breathing irregularities and autistic–like behavior.

Methods: Some video clips of early signs and symptoms of a typical patient with RS will be shown and the most salient features (behavioral, facial expression, motor, physical and other patterns of recognition) will be discussed among different diagnosticians on primary/secondary/tertiary level of care. Risk factors for late diagnosis will be pinpointed.

Results: Crucial step is the referral to neurology and developmental paediatric specialist for coordinate care. Multiple trusted professional contacts should be established and routine annual checklists should follow these. Developmental paediatrician will take care of early intervention programs (physical, occupational and speech therapy) and do the follow up, while neurologist will help establish the baseline and prognosis and will take care of medication (for possible epilepsy, sleep problems, behavioral problems and sympathovagal imbalance and/or dysautonomia). Other treatment of RS includes management of gastrointestinal (reflux, constipation) and nutritional issues, surveillance of scoliosis and possible QT syndrome.

Conclusion: RS is a complex debilitating syndrome that affects both the patient and his family. For PCP it is important to recognize the early sings and to make an early diagnosis. A developmental paediatrician will thereafter take care of early interventions and coordinate care, while a child neurologist will take care of neurological problems and make appropriate referrals to other tertiary care specialists.