Rett Syndrome - Treatment & Management

Referral to developmental services such as speech, occupational, and physical therapy should be made for girls with RS. Girls under three should be referred to Early Intervention (see Services) and girls over 3 should seek developmental services through the schools. Although therapies are sometimes available through these means, the intensity and frequency of this therapy may not be adequate for girls with RS and private therapy should be considered. A referral to a physiatrist and team might be helpful in this regard. Augmentative communication referrals should be considered for all girls with Rett syndrome. (See Augmentative Communication (general)).

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Seizures are frequent in girls with Rett syndrome and parents of these girls should be educated regarding what to watch for. As behavioral events may be difficult to distinguish from seizures in these girls, and as seizures in RS may be difficult to control, girls with RS should be referred to pediatric neurology for initial seizure diagnosis and treatment. Abnormal random discharges on EEG not correlated with seizure activity clinically do not need to be treated with antiepileptic medication. It will then be up to the neurologist and the Medical Home to communicate regarding follow-up treatment; some seizures may be managed completely within the Medical Home model whereas others may need frequent neurology consultation. There is some evidence that topiramate may be especially effective in girls with RS and that it may help respiratory function in some. [Goyal: 2004] See the Seizure module for more information. Medications for seizures and possibly behavior to be given in school may need to be ordered and followed by the Medical Home.

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Reflux: Girls with Rett syndrome have a high frequency of gastro-esophageal reflux, possibly due to their difficulties with muscle coordination. Reflux may present as arching, irritability, or food refusal rather than vomiting. Treatment can be started empirically (see Gastroesophageal reflux (general) for details of treatment) with referral to gastroenterology if symptoms continue. Treatment is generally initiated with a proton pump inhibitor. Treatment of reflux can be augmented by the use of a motility agent (metoclopromide or low dose erythromycin) or H2 blocker but the clinician must monitor closely for side effects (particularly irritability or dystonia with metoclopromide). Medical therapy is not successful in some patients and surgical procedures may be necessary. When medical therapy is not successful, Nissen or other type of fundoplication may be recommended and can be performed laparoscopically in some cases which shortens hospital and overall recovery time. For children who do not feed orally who are poor surgical candidates, another option is moving the distal end of the feeding tube to the small intestine (ie, GJ tube or J tube). See Feeding tube issues (general) and Kidswithtubes.org for more information.

Air swallowing and abdominal distention: If problematic, behavioral treatment such as decreasing the length of mealtimes and keeping the child in a sitting position to maximize burping as well as avoiding constipation may be adequate. In severe cases, measures such as gastrostomy tubes or Nissen fundoplication may be necessary.

Constipation is common in girls with Rett syndrome and should be asked about at visits to the Medical Home. Dietary intake should be optimized for the control of constipation (high fluid and high-fiber foods). Treatment should be as needed (see Bowel management algorithm ( 47 KB) and Constipation treatment (general)).

Swallowing problems may result in drooling, malnutrition, aspiration, and dental caries. If swallowing problems causes aspiration, a referral to gastroenterology or pediatric surgery for feeding tube placement should be made. If dysphagia is determined to be a problem, diets using pureed foods and thickened liquids or feeding with a gastrostomy tube may be necessary to decrease aspiration and to help with nutrition. See Power Packing (general) and Thickening Liquids and Pureeing Foods (general).

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Nutrition: Causes of poor nutrition include lack of purposeful hand movement, difficulties with coordination of chewing and swallowing, and length of time for feeding. Treatment options include small frequent meals, supplementation with Pediasure, Ensure or similar formulas, and if the girl is still underweight, consideration of feeding tube placement. Referrals to nutrition early in the course of RS should be considered. See Information on Power Packing (general) and Thickening Liquids and Pureeing Foods (general).

Osteoporosis: As osteoporosis is common in girls with RS, diet should be optimized for calcium and vitamin D (see Calcium and vitamin D (general)). If fractures have occurred and a DEXA scan has shown decreased bone density, consider a trial with a bisphosphonate. While palmidronate needs to be given IV once every two months, there are numerous preparations such as alendronate and risedronate that are given orally at weekly or monthly intervals. There is no long term data regarding their use in children, and osteonecrosis of the jaw is a potential although very small risk (see individual product data) but these medicines are helpful in preventing fractures in children with cerebral palsy. [Henderson: 2002] As with administration of bisphosphonate to anyone, girls with RS need to have empty stomachs and be able to sit upright (or be positioned in an upright fashion) for 30 minutes after ingestion. The medication can be given with a small spoon of applesauce to allow it to be swallowed. Episodes of heartburn and known uncontrolled reflux are relative contraindications. See Osteopenia/Pathologic Fractures (general) for more information.

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Heart problems are fairly frequent in older girls with RS, usually rhythm problems with either abnormally long pauses between heartbeats or arrhythmias. Girls with RS should have regular EKGs and if abnormal be evaluated by a pediatric cardiologist, or if older by a cardiologist that is familiar with pediatric cardiac disease. Families of girls with RS and prolonged QT syndrome should know which medications to avoid (see Drugs that Prolong the QT Interval and/or Induce Torsades de Pointes Ventricular Arrhythmia) in long QT patients. If the EKG is abnormal, a pediatric cardiologist with expertise in arrhythmias should be consulted.

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GIrls with RS should be followed for hand and foot deformities, and scoliosis, both of which may develop during childhood and adolescence. Up to 80% of girls with RS have scoliosis in young adulthood. The scoliosis curve may develop quite quickly and bracing does not seem to be helpful to prevent it. The IRSA is gathering information regarding the incidence and treatment of scoliosis in the hope of providing consensus guidelines. See Scoliosis information from the IRSF.

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As it takes time to evaluate a child for a wheelchair, get insurance approval, and order the wheelchair, possibly as long as 6 months, this needs to be done before the girl with RS is having great difficulty walking. Parents generally find that having a wheelchair available is helpful although sometimes initially raising the issue of a child needing a wheelchair can be emotionally difficult. If the girl with RS is two and not yet sitting by herself, she will need a wheelchair for positioning as well as transport. Good positioning in a wheelchair with postural support and availability of a tray for toys and food may be helpful for preventing scoliosis and developmental tasks.

Girls with RS will usually need developmental and rehabilitative therapies including PT, OT, and speech, and may benefit from an augmentative communication device. See Augmentative Communication (general).

Agitation, self injurious behavior, and other behavior abnormalities are frequent in girls with RS, and behavior problems can be overwhelming for families. Behavioral counseling and medications may be necessary to manage these problems, especially agitation. Before visiting professionals for help, families should keep a brief record of the problem behaviors and their frequency as well as factors that bring on the behavior or decrease it. Low dose resperidone, other atypical antipsychotics, and SSRIs have been used to treat agitation when necessary. Naltrexone may also be helpful for self-injurious behavior.

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Abnormal breathing in RS does not normally need treatment; although episodes of abnormal breathing may appear dangerous, they usually consist of hyperventilation followed by normal breathing. Topiramate, which is prescribed for girls with RS for seizures, may also help with breathing problems ([Goyal: 2004]). Naltrexone, an opiate antagonist, may help control irregular breathing, and may be helpful in decreasing agitation and self-injurious behavior. See IRSF medication trials.

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Sleep problems are common and difficult in girls with Rett syndrome, and should be treated if they are causing disruption to the family. Sleep problems may be noted as early as a few months of age. Medical problems disrupting sleep, e.g., reflux, and seizures need to be ruled out, and treatment should begin with behavioral interventions. If not successful, medications that might be helpful include diphenhydramine, chloral hydrate (successful only for short periods), melatonin, low dose trazadone and clonidine. See Medications for sleep (general) for more information.

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There is not much information on sexual development in girls with RS, but in 1 study girls acheived maturation at typical ages despite growth retardation. [Holm: 1986] Menstrual periods may be difficult to manage in girls with difficulty using their hands and intellectual disability and various treatments are available including depo-provera and non-cycling oral contraceptives. For more information, see Sexuality and People with Disabilities ( 257 KB) .

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For Professionals

Rett syndrome fact sheet (NIH)
Information regarding the diagnosis of RS from the NIH

Rett syndrome information (Medscape)
Information regarding the diagnosis and management of RS.

For Parents and Patients

The IRSA offers some guidelines for scoliosis evaluation ( Scoliosis information from the IRSF) and cardiac monitoring (International Rett Syndrome Association (IRSA)). Also, [Wilson: 2000] and [Allen: 2004] offer preventative management guidelines for children with chronic conditions, although not specifically for RS.

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