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Pervasive Developmental Disorder: Rett Syndrome: Follow-up

Author: Bettina E Bernstein, DO, Assistant Professor, Department of Psychiatry, Philadelphia College of Osteopathic Medicine; Private Practice at the Wynnewood House, Consultant to Child Guidance Resource Centers, Early Elementary Education Program
Coauthor(s): Joseph H Schneider, MD, Clinical Assistant Professor of Pediatrics, Section of Neonatology, Univ. Texas Southwestern at Dallas and Childrens Medical Center; Daniel G Glaze, MD, Medical Director, Blue Bird Circle Rett Center; Associate Professor, Departments of Pediatrics and Neurology, Baylor College of Medicine
Contributor Information and Disclosures

Updated: Mar 13, 2008

Follow-up

Further Outpatient Care

  • Agitation and screaming
    • Perhaps as attempts to communicate, agitation and screaming are common and are often distressing to families.
    • Patients with Rett syndrome (RS) need gradual transitions and may have great difficulty communicating physical problems to physicians.
    • The clinician should perform careful evaluation to exclude clinical problems and pain.
    • If a clinical reason cannot be found for agitation, treatment may include warm baths, massage, music, or a quiet less-stimulating environment.
  • Sleep disturbances
    • For management of sleep disturbances, short-acting nonbenzodiazepine receptor agonists (eg, zaleplon, zolpidem) may be helpful without untoward effects on daytime functioning.
    • Other approaches to sleep problems have included use of melatonin with dosage range of 2.5-7.5 mg and behavioral techniques.
  • Constipation
    • Constipation is common in patients with RS.
    • Order adequate fluid intake, high fiber intake, and exercise.
    • Stool softeners may be necessary; however, avoid continuous laxatives, suppositories, and enemas.
    • Long-term mineral oil use interferes with the absorption of certain fat-soluble vitamins.
    • Regular oral milk of magnesia can be used.
  • Scoliosis
    • Scoliosis occurs in more than one half of patients with RS, usually when aged 8-11 years.
    • Scoliosis may progress rapidly, especially if early hypotonia, dystonia, or loss of ambulation is present.
    • Close monitoring is necessary to determine if bracing or surgery is needed.
  • Osteopenia with possible fractures: Possibly occurring for multiple reasons, osteopenia with possible fractures can be minimized through physical therapy, good nutrition, and close observation.26
  • Birth control
    • In most girls with RS, puberty occurs at the same age as girls without RS.
    • Discussions of birth control should occur with the patient's guardians.

Prognosis

  • Development
    • Developmental potential for patients with RS is difficult to predict.
    • Some individuals with RS achieve and maintain some functional skills.
    • Of patients with RS, as many as 60% may retain their abilities to ambulate; the remainder lose ambulation or never walk because of atrophy, dystonia, and scoliosis.
  • Lifespan
    • In a case study by Hagberg et al of 54 patients, the median age at death was 24 years.27 In most cases, death was sudden and unexpected.
    • However, more recent experiences based on longer follow-up care indicate that, with attention to nutritional needs and comprehensive programs of physical and occupational therapies, individuals with RS can be expected to survive long into adulthood.
    • Reports of women with RS in their sixth and even eighth decade of life are now available.
  • Diagnosis
    • Although no cure for RS is available, accurately identifying the diagnosis has many advantages. For example, girls with RS may be able to retain some communicative skills with proper assistance.
    • Because persons with RS are at significant risk of malnutrition, enact steps to adjust their diets to avoid malnutrition.
    • Individuals with RS are at risk of sudden death, possibly from long-QT sequelae; therefore, identifying patients with this condition is important.
    • Finally, diagnosis can bring relief to parents and help to identify the scope of clinical problems that can be anticipated.

Patient Education

  • International Rett Syndrome Association
    • International Rett Syndrome Association, Clinton, MD (800-818-7388), supports international research and meetings of parents and professionals to improve knowledge of RS.
    • The Rett Syndrome Web site is available in multiple languages.
    • The Web site provides overviews of RS and highlights individuals living with RS.
    • The site also provides a discussion group for parents, doctors, and researchers, updated research findings, research contacts, an online library, and links to other RS-related sites.
    • Several laboratories provide diagnostic sequencing of the MECP2 gene. Specifics of how to obtain this testing can be found on the International Rett Syndrome Association Web site.
  • Blue Bird Circle Rett Center
    • The Blue Bird Circle Rett Center of Baylor College of Medicine (Houston, TX; 713-798-RETT [7388] or 888-430-RETT), operates one of the largest RS clinics in the world.
    • The Blue Bird Circle Rett Center Web site contains additional information.
    • The Blue Bird Circle Rett Center is part of a Rett Consortium with the University of Alabama at Birmingham and the University of California at Los Angeles.
  • The Rett Program: The Rett Program at the Kennedy-Krieger Institute, Johns Hopkins University School of Medicine (Baltimore, MD; 800-873-3377) can provide additional information.

Miscellaneous

Medicolegal Pitfalls

  • Diagnosis of Rett syndrome (RS) is initially difficult; however, the observant pediatrician may note deceleration of head, weight, and height growth.
  • Although no cure is available for this disorder, early identification of RS may help with parental concerns and maximize the girl's potential, which is influenced by an active lifestyle, good nutrition, and the amount of effective physical therapy received.
  • In view of expected survival into adulthood, discuss provisions for guardianship and long-term care with parents and caregivers of individuals with RS.
 


More on Pervasive Developmental Disorder: Rett Syndrome

Overview: Pervasive Developmental Disorder: Rett Syndrome
Differential Diagnoses & Workup: Pervasive Developmental Disorder: Rett Syndrome
Treatment & Medication: Pervasive Developmental Disorder: Rett Syndrome
Follow-up: Pervasive Developmental Disorder: Rett Syndrome
References
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References

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Further Reading

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Keywords

pervasive developmental disorder, PDD, Rett syndrome, RS, cerebroatrophic hyperammonemia, neurologic disorder, neurodevelopmental arrest, genetic disorder, severe congenital encephalopathy, dystonia apraxia, retardation, epilepsy, oral-motor dysfunction, somatic growth failure, gastroesophageal reflux, GER, scoliosis, sleep disturbances, MECP2, congenital RS, hypotonia, hand wringing, strabismus

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Contributor Information and Disclosures

Author

Bettina E Bernstein, DO, Assistant Professor, Department of Psychiatry, Philadelphia College of Osteopathic Medicine; Private Practice at the Wynnewood House, Consultant to Child Guidance Resource Centers, Early Elementary Education Program
Bettina E Bernstein, DO is a member of the following medical societies: American Academy of Child and Adolescent Psychiatry and American Psychiatric Association
Disclosure: Nothing to disclose.

Coauthor(s)

Joseph H Schneider, MD, Clinical Assistant Professor of Pediatrics, Section of Neonatology, Univ. Texas Southwestern at Dallas and Childrens Medical Center
Joseph H Schneider, MD is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, Texas Medical Association, and Texas Pediatric Society
Disclosure: Nothing to disclose.

Daniel G Glaze, MD, Medical Director, Blue Bird Circle Rett Center; Associate Professor, Departments of Pediatrics and Neurology, Baylor College of Medicine
Daniel G Glaze, MD is a member of the following medical societies: American Clinical Neurophysiology Society, American Neurological Association, and Child Neurology Society
Disclosure: Nothing to disclose.

Medical Editor

Carol Diane Berkowitz, MD, Executive Vice Chair, Department of Pediatrics, Professor, Harbor-University of California at Los Angeles Medical Center
Carol Diane Berkowitz, MD is a member of the following medical societies: Alpha Omega Alpha, Ambulatory Pediatric Association, American Academy of Pediatrics, American College of Emergency Physicians, American Medical Association, American Pediatric Society, and North American Society for Pediatric and Adolescent Gynecology
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine.com, Inc
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

CME Editor

Carrie Sylvester, MD, MPH, Director of Education in Child and Adolescent Psychiatry, Professor, Departments of Psychiatry and Pediatrics, Northwestern University Medical School
Carrie Sylvester, MD, MPH is a member of the following medical societies: American Academy of Child and Adolescent Psychiatry, American Academy of Pediatrics, American Medical Women's Association, American Psychiatric Association, and American Society for Adolescent Psychiatry
Disclosure: Nothing to disclose.

Chief Editor

Caroly Pataki, MD, Professor of Clinical Psychiatry, Department of Psychiatry and Biobehavioral Sciences, Division Chair of Child and Adolescent Psychiatry, Director of Training, Child and Adolescent Psychiatry Residency Program, University of Southern California Keck School of Medicine
Caroly Pataki, MD is a member of the following medical societies: American Academy of Child and Adolescent Psychiatry, New York Academy of Sciences, and Physicians for Social Responsibility
Disclosure: Nothing to disclose.

 
 
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