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Rett Syndrome
- What is Rett syndrome?
- How do you get Rett syndrome?
- What are the symptoms?
- How is it diagnosed?
- What is the expected outcome?
- Will anyone else in the family get Rett syndrome?
- What is the treatment?
- How will my family’s life be changed?
- Sometimes my daughter breathes faster than normal. What happens when she hyperventilates?
- What should we do about her irregular breathing?
- Should my daughter with Rett syndrome have an electrocardiogram (ECG)?
- Do children with Rett syndrome have seizures?
- What does the future hold for people with Rett syndrome?
- Resources
What is Rett syndrome?
How do you get Rett syndrome?
What are the symptoms?
- Slowed rate of growth for head, feet, and hands
- Involuntary hand movements
- Loss of mobility or and gait (walking/running manner) disturbances
- Breathing issues
- Seizures
- Scoliosis (sideways curvature of the spine)
- Sleep problems
- Loss of muscle tone
- Irritability and inconsolable crying
- Difficulties with feeding, chewing, and swallowing
- Apraxia (a speech disorder usually caused by muscle weakness)
How is it diagnosed?
What is the expected outcome?
Will anyone else in the family get Rett syndrome?
What is the treatment?
How will my family’s life be changed?
Sometimes my daughter breathes faster than normal. What happens when she hyperventilates?
What should we do about her irregular breathing?
Should my daughter with Rett syndrome have an electrocardiogram (ECG)?
Do children with Rett syndrome have seizures?
What does the future hold for people with Rett syndrome?
Resources
Information & Support
Rett Syndrome
Assessment and management information for the primary care clinician caring for the child with Rett syndrome.
Care Notebook
Medical information in one place with fillable templates to help both families and providers. Choose only the pages needed to keep track of the current health care summary, care team, care plan, health coverage, expenses, scheduling, and legal documents. Available in English and Spanish.
For Parents and Patients
The Rett Syndrome Handbook ( 100.9 MB)
Offers a detailed guide to living with Rett syndrome and is an excellent chapter reference for the specialists treating your
child.
Primary Care Guidelines ( 211 KB)
A great resource for parents and doctors on how to stay on top of a Rett syndrome diagnosis, including crucial information
to know and implement as soon as possible in order for the girl with Rett syndrome to have the best chances of success.
Communication Guidelines
This book describes the communication abilities of children with Rett syndrome and discusses ways to help them be involved
in meaningful school, play, and social interactions.
Nutritional Guide ( 4.4 MB)
Provides information about nutritional options, the potential difficulties that may come with a Rett syndrome diagnosis, and
resources and knowledge to make the best choices for your child
Rett Syndrome Information Page (NINDS)
An overview of Rett syndrome with links to other organizations, from the National Institute of Neurological Disorders and
Stroke.
Síndrome de Rett (NINDS)
Spanish language overview of Rett syndrome; National Institute of Neurological Disorders and Stroke.
Rett Syndrome (MedlinePlus)
Excellent, detailed review of condition for patients and families; National Library of Medicine and National Institutes of
Health.
Rett Syndrome (MedlinePlus)
Brief description of RS and numerous links to other reliable sources of information for parents and family members; from the
National Library of Medicine.
Rett syndrome (MedlinePlus Encyclopedia)
Information for families that includes description, frequency, causes, inheritance, other names, and additional resources;
from the National Library of Medicine.
Patient Education
Kids with Tubes
Information about tube-feeding from families, for families. Although the site is not updated often, the information remains
valuable.
Services for Patients & Families in New Mexico (NM)
Service Categories | # of providers* in: | NM | NW | Other states (4) (show) | | NV | OH | RI | UT |
---|---|---|---|---|---|---|---|---|---|
Audiology | 19 | 3 | 8 | 4 | 25 | 28 | |||
Bone Densitometry/DEXA | |||||||||
Developmental Assessments | 104 | 1 | 6 | 1 | 35 | 55 | |||
Developmental - Behavioral Pediatrics | 2 | 1 | 2 | 2 | 12 | 9 | |||
Early Intervention for Children with Disabilities/Delays | 35 | 3 | 32 | 3 | 14 | 55 | |||
Genetic Testing and Counseling | 5 | 5 | 12 | 6 | 7 | 12 | |||
Gynecology: Pediatric/Adolescent; Special Needs | 1 | 3 | 12 | ||||||
Medical Genetics | 2 | 1 | 5 | 1 | 4 | 8 | |||
Nutrition Assessment Services | 3 | 1 | 2 | 5 | |||||
Occupational Therapy | 17 | 1 | 27 | 2 | 19 | 38 | |||
Pediatric Cardiology | 2 | 4 | 17 | 5 | |||||
Pediatric Dentistry | 6 | 2 | 31 | 3 | 41 | 50 | |||
Pediatric Endocrinology | 4 | 1 | 6 | 1 | 13 | 4 | |||
Pediatric Gastroenterology | 3 | 1 | 6 | 1 | 19 | 4 | |||
Pediatric Neurology | 5 | 5 | 17 | 7 | |||||
Pediatric Ophthalmology | 6 | 1 | 6 | 1 | 8 | 4 | |||
Pediatric Orthopedics | 6 | 4 | 8 | 4 | 16 | 19 | |||
Pediatric Physical Medicine & Rehabilitation | 3 | 3 | 3 | 3 | 6 | 14 | |||
Pediatric Pulmonology | 4 | 4 | 8 | 4 | |||||
Physical Therapy | 12 | 11 | 1 | 5 | 47 | ||||
Psychiatry/Medication Management | 2 | 49 | 79 | 56 | |||||
Sleep Disorders | 2 | 2 | |||||||
Sleep Studies/Polysomnography | 2 | 1 | 5 | ||||||
Speech - Language Pathologists | 22 | 4 | 13 | 4 | 31 | 69 | |||
Swallow Studies | 1 | 1 |
For services not listed above, browse our Services categories or search our database.
* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.
Studies
Rett Syndrome (clinicaltrials.gov)
Studies looking at better understanding, diagnosing, and treating this condition; from the National Library of Medicine.
Helpful Articles
Vashi N, Justice MJ.
Treating Rett syndrome: from mouse models to human therapies.
Mamm Genome.
2019;30(5-6):90-110.
PubMed abstract / Full Text
Authors & Reviewers
Author: | Lynne M. Kerr, MD, PhD |
Reviewer: | Matthew Heimburger |
2017: first version: Jennifer Goldman, MD, MRP, FAAPR |
Page Bibliography
Kerr AM, Julu PO.
Recent insights into hyperventilation from the study of Rett syndrome.
Arch Dis Child.
1999;80(4):384-7.
PubMed abstract / Full Text
Wong VC, Li SY.
Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental
disorders.
J Child Neurol.
2007;22(12):1397-400.
PubMed abstract