Rett Syndrome and your daughter
Rett syndrome or Rett disorder is a rare genetic neurodevelopmental disorder that affects mainly females.
Once classified as a rare form of autism that affected females, Rett disorder was removed from the list of autism spectrum disorders and made separate because it is a genetic disorder.
According to paediatrician Dr Michelle Williams, it is caused by a mutation on a particular gene that mostly occurs in females, but doesn’t manifest until they are six months or older.
“Initially they have normal development and then at about six to 18 months they are regressing in their milestones. For example, they are no longer walking or sitting upright on their own. They are also known to have decreased head growth. There is decrease in social interaction; no eye contact, disinterest in play, loss in communicative skills and abnormal behaviours such as hand wringing and clapping become more evident,” Dr Williams said.
The paediatrician added that if the disorder is seen in males, it is a more severe form, which causes most of the male babies to die before birth.
Complications of Rett disorder, according to Dr Williams, include feeding and swallowing difficulties, constipation, poor weight gain, breathing difficulties, seizures, scoliosis — abnormal curvature of the spine — and thin, fragile bones, which are at risk for fractures.
While Rett disorder has no cure, Dr Williams said a multi-disciplinary approach is used to optimise the patient’s functional ability.
“Physiotherapy is used to help with motor functioning skills such as walking. Occupational therapy is used to improve co-ordination and movement of the hands. They also need the assistance from certain devices such as wheelchairs and devices for their hands. Speech therapy helps to assist communication ability as much as possible. There is long-term monitoring for complications and treating different medical issues, for example, seizures,” she said.
Dr Williams added that because it can be difficult to cope with this diagnosis and to care for a child with these needs, the caregivers usually need psychosocial support.
