Home > Diagnoses & Conditions > Rett Syndrome > Ongoing Assessment
Rett Syndrome - Ongoing Assessment
Screening
There is no screening recommended for this disorder. Testing is performed for clinical symptoms suggestive of RS or in girls with unexplained MR.Diagnostic Criteria
See Diagnositc Criteria on the Rett Syndrome, Initial Diagnosis page.Pearls And Alerts
Rarely, problems with irregular breathing may be associated with air swallowing which can cause abdominal distention and increased gas and may lead to severe gastrointestinal problems (rupture and peritonitis) if not treated.
Gallstones are more common in the RS population than in normal children and should be considered in girls with intellectual disability presenting with abdominal distress. Conversely, consider testing for RS in girls with intellectual disabilities and gallstones. See Gall bladder disease in Rett syndrome.
History And Examination
Interim History
Seizures: Ask about seizure activity, including seizure frequency and side effects of antiepileptic medications. Up to 90% of girls with RS have seizures at sometime in their lives, generally after the initial regressive period, although seizures may decrease in number and sometimes stop completely in adolescence. Seizures are generally grand mal or partial complex and these are easy to diagnose. However, parents may also describe episodes of staring, which may be atypical absence seizures, eye rolling, or myoclonic jerks. For more information regarding seizures, see the Seizure module.Swallowing problems should be inquired about with every visit to the Medical Home as they occur in most girls with RS. They may be one of the causes of malnutrition in girls with RS and may be linked to premature death due to choking or aspiration-caused pneumonia. The first signs of swallowing problems usually appear as choking and coughing with liquids, especially water, as it is the thinnest liquid. Foods that need extensive chewing are generally not tolerated well once swallowing difficulties occur.
Breathing problems Girls with RS typically have episodes of abnormal breathing, consisting of disorganized breathing with periods of apnea and/or hyperventilation and resulting oxygen desaturation and clinical cyanosis. These become less noticeable with age and should not be confused with seizures. Irregular breathing does not occur in sleep, so girls with RS with abnormal sleep breathing need to be evaluated for diagnoses such as obstructive sleep apnea.
Digestive problems
- Constipation is a common problem and can cause weight loss and discomfort. See Constipation evaluation tool
(
84 KB)
, Home toileting record
( 49 KB)
and Bowel management parent information for patient management/education material.
- Ask about symptoms of gastroesophageal reflux, which is also common. See Gastroesophageal reflux (general).
- Ask about air swallowing and abdominal distention.
- Gallstones are more common in girls with Rett syndrome than in typically developing children and can be easily overlooked. Consider gallstones as well as obstruction in a girl with RS who presents with abdominal distress. See Gall bladder disease in Rett syndrome.
Nutritional status/growth: Family concerns regarding eating and weight should be assessed. Also see Nutrition and growth in children with CP. Assess calcium and vitamin D intake, as osteoporosis is common in this population due to underlying nutritional problems, hypotonia, decreased mobility and/or antiepileptic medications. Also see Osteopenia/Pathologic Fractures (general) for more information.
Mobility/Orthopedic issues: Gait may become increasingly difficult due to many factors including ataxia, and should be evaluated with each chronic care visit. Scoliosis should also be looked for both clinically and if there is any concern with Xrays of the spine. By early adulthood, up to 80% of girls with RS develop scoliosis to some extent. [Kerr: 2003] See guidelines for scoliosis management from the IRSA - Scoliosis information from the IRSA.
Sleep problems: Many girls with RS have difficulty sleeping. Although normal breathing occurs during sleep in girls with RS, the total sleep time may be decreased, and girls with RS may show periods of prolonged wakefulness and/or sleep. Frequent night time awakenings with laughing, crying, and or screaming may occur; screaming may represent an unrelated medical problem such as reflux or seizure as well as a sleep related phenomena.
Developmental and Educational Progress
For repeat visits to the Medical Home it is important to evaluate the child's developmental progress. Often this is most easily done by getting early intervention and school evaluations. Families may need letters from the Medical Home to request some accomodations at school such as an evaluation by the augmentative communication team.Social and Family Functioning
Social functioning of the girl with RS should be evaluated as well as overall family functioning. Behavior management may be a significant problem and should be inquired about.Physical Exam
Testing
Imaging and EEG
In girls without clinical seizures, there is no need to do routine EEGs unless seizure activity is strongly suspected. When necessary to perform an EEG, it should contain both sleep and wake states during the interval recorded. During early stages of RS, the EEG will often show slowing of the occipital dominant rhythm with spike or sharp wave activity during sleep, in a pattern common for, but not pathognomic of, RS. During later stages, the occipital dominant rhythm and non-REM sleep characteristics often disappear. Sometimes the only way to clarify the issue of whether certain events, such as staring, represent seizures is to do an overnight (or longer) video EEG to see if the activity being questioned is correlated with EEG seizure activity.Other Testing
Swallow study - This test is recommended if a girl with RS has swallowing problems. OT or speech therapy (depending on location) can evaluate swallowing function and safety, determine if interventions (e.g., speech therapy, special feeding techniques, improved feeding position) might lead to improvements in function, and determine the safest and most efficient textures for eating. In some cases, the therapist may suggest a fluoroscopic video swallow study (also called a modified barium or cookie swallow) be part of this evaluation. See see all Swallow Studies services providers (1) in our database.EKG - The IRSA recommends yearly screening beginning at age 5. See FAQ (IRSA).
Bone Densitometry (DEXA) scan - Especially in the clinical setting of fractures, consider a DEXA scan for assessment of bone density. See see all Bone Densitometry/DEXA services providers (3) in our database.
Sleep study - Consider if there are problems with breathing during sleep, including snoring, frequent awakenings, or excessive daytime sleepiness.
Subspecialist Collaborations and Other Resources
Developmental Pediatrics (see Services below for relevant providers)
For evaluation of developmental progress and behavioral concerns
Pediatric Genetics (see Services below for relevant providers)
as well as genetic counselors may be helpful regarding prognosis, management, inheritance and genetic risks to other family members
Pediatric Neurology (see Services below for relevant providers)
Referral to a pediatric neurologist familiar with issues of RS is generally recommended for most girls with RS. A referral to neurology may be especially helpful in differentiating seizures from other types of episodes.
Pediatric Physical Medicine & Rehab (see Services below for relevant providers)
A referral to a rehabilitation team should be considered for evaluation of abilities.
Child Psychiatry (see Services below for relevant providers)
For evaluation of behavior problems with consideration of possible treatment with medications
Pediatric Cardiology (see Services below for relevant providers)
For interpretation of EKGs and education/management of long QT syndrome. The IRSA recommends yearly EKGs starting at age 5. FAQ (IRSA)
Pediatric Gastroenterology (see Services below for relevant providers)
For evaluation of nutritional problems, reflux, and constipation. A primary care provider might wish to involve a gastroenterologist if these problems have not responded to usual management.
Pediatric Orthopedics (see Services below for relevant providers)
A baseline assessment by pediatric orthopedics is recommended by the IRSA and follow-up evaluations as recommended.
Sleep Studies/Polysomnography (see Services below for relevant providers)
For evaluation of sleep disorders including sleep apnea and frequent awakenings.
Resources
Information & Support
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.
Rett syndrome diagnosis (WE MOVE)
Succinct information regarding the diagnosis of Rett syndrome.
For Parents and Patients
Support
International Rett Syndrome Association (IRSA)
This link contains information about RS, research, ongoing studies, and RS related news.
General
Rett syndrome (MedlinePlus Encyclopedia)
overview of Rett syndrome, with links to more information; from the National Library of Medicine
Practice Guidelines
Tools
Constipation evaluation tool
( 84 KB)
Provides a format for evaluation of chronic constipation in children.
Home toileting record
( 49 KB)
An easy-to-use form for keeping track of a child's toileting habits.
Services
Electroencephalography (EEG)
See all Electroencephalography (EEG) services providers (2) in our database.
Pediatric Gastroenterology
See all Pediatric Gastroenterology services providers (2) in our database.
Pediatric Physical Medicine & Rehab
See all Pediatric Physical Medicine & Rehab services providers (6) in our database.
Sleep Studies/Polysomnography
See all Sleep Studies/Polysomnography services providers (6) in our database.
For other services related to this condition, browse our Services categories or search our database.
Helpful Articles
PubMed search on Rett syndrome: review articles over the last 5 years
Segawa M, Nomura Y.
Rett syndrome.
Curr Opin Neurol.
2005;18(2):97-104.
PubMed abstract
Nomura Y, Segawa M.
Natural history of Rett syndrome.
J Child Neurol.
2005;20(9):764-8.
PubMed abstract
Authors
| Author: | Lynne M Kerr MD, PhD, 6/2008 |
| Reviewing Author: | Karin Dent MS, CGC, 6/2008 |
| Content Last Updated: | 6/2008 |
Page Bibliography
Allen, PJ and Vessey, JA ed.
Primary Care of the Child with a Chronic Condition.
Fourth Edition ed. St. Louis, Missouri: Mosby;
2004.
-13 978-0-323-02364-1
Kerr AM, Webb P, Prescott RJ, Milne Y.
Results of surgery for scoliosis in Rett syndrome.
J Child Neurol.
2003;18(10):703-8.
PubMed abstract
Wilson, GN and Cooley, WC.
Preventive Management of Children with Congenital Anomalies and Syndromes.
Cambridge, United Kingdom: Cambridge University Press;
2000.
0 521 77673 2