RETT Syndrome-An Overview
Rett syndrome (RTT) is a rare genetic neurodevelopmental disorder predominately occurring in females, although male patients may also be affected [1]. RTT was first described in medical literature by Andreas Rett, a neurodevelopmental pediatrician in Vienna, as a cognitive impairment disorder affecting 1 in 10,000 female births [2]. RTT is caused due to mutations in the X-linked gene (MECP2) encoding the methyl-CpG-binding protein 2 (MeCP2) [3]. The clinical course of the disorder is characterized by a broad spectrum of signs and symptoms (Figure 1) with apparently normal development for the first 6–18 months of life followed by the loss of acquired fine and gross motor skills, and the development of stereotypic hand movements [4].
Signs & Symptoms
Figure 1: Signs & Symptoms of Rett Syndrome [5]
Stages of RTT
RTT is described in four distinct stages, viz., [6, 7]
Atypical Rett Syndrome
Atypical RTT presents with either a milder or more severe clinical picture in comparison to typical RTT. It accounts for almost 15% of the RTT cases. Atypical RTT is considered when a child does not meet all the diagnostic criteria of classic RTT but meet the diagnostic criteria for atypical RTT (see diagnostic criteria below) [8]. The subvariants of atypical RTT are as follows [9, 10]:
I. Hanefeld variant (early-onset seizure type)
Characterized by seizures in the first months of life with later development of RTT features.
II. Rolando variant (congenital variant)
The most severe form of atypical RTT syndrome, characterized with classic RTT features during the first three months of life.
III. Forme Fruste variant
A milder form of atypical RTT syndrome, with onset in early childhood and an incomplete and prolonged course.
IV. Late childhood regression variant
Characterized by a normal head circumference. Patients present with a more gradual and late childhood onset regression of language and motor skills.
V. Zappella variant (Preserved speech variant/ PSD)
Characterized by recovery of some verbal and manual skills.
Diagnostic Criteria
Diagnosis requires either the presence of the MECP2 mutation or fulfillment of the diagnostic criteria or both [11].
Treatment Modalities
Currently, there is no cure for Rett syndrome. However, symptomatic treatment with a multidisciplinary approach has been beneficial in the management of RTT patients. These include [7, 12, 13],
i. Physical therapy: To improve/ maintain mobility and balance, provide weight-bearing training for patients with scoliosis
ii. Occupational therapy: To reduce stereotypic hand movement, improve/ maintain use of hands, and help develop skills needed for performing self-directed activities
iii. Speech-language therapy: To facilitate nonverbal communication and social interaction
iv. Feeding assistance: Calcium and mineral supplements, high-calorie, high-fat diet, feeding tube
v. Physical assistance: Braces or surgery for scoliosis, splints
vi. Pharmacological approach: Medication for breathing irregularities and motor difficulties, Anti-convulsant (sodium valproate, lamotrigine, carbamazepine, clobazam, etc.) for seizures.
Apart from these, special academic, social, vocational, and support services may also be required.
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References:
1. Gold WA KR, Ellaway C, Christodoulou J. Rett Syndrome: A Genetic Update and Clinical Review Focusing on Comorbidities. ACS Chem Neurosci. 2018;9:167–76.
2. Rett AJWmW. On a unusual brain atrophy syndrome in hyperammonemia in childhood. 1966;116(37):723.
3. Sharma N. Rett Syndrome. Encyclopedia of Neuroscience. 2009:305–7.
4. Rett syndrome 2007 [Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=778.
5. What is Rett Syndrome? 2019 [Available from: https://www.girlpower2cure.org/our-cause/what-is-rett-syndrome/.
6. Arthur Beisang. RT, and Robert Wagner. Rett Syndrome: Infancy to Adulthood. A Pediatric Perspective [Internet]. 2008; 17. Available from: https://www.gillettechildrens.org/assets/uploads/general/Newsletter_PDFs/Vol17No1.pdf.
7. Rett Syndrome Fact Sheet National Institute of Neurological Disorders and Stroke.2017 [Available from: https://web.archive.org/web/20171014183306/https:/www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Rett-Syndrome-Fact-Sheet.
8. Rett Syndrome 2017 [Available from: https://www.medicalhomeportal.org/diagnoses-and-conditions/rett-syndrome.
9. Atypical Rett syndrome 2013 [Available from: https://rarediseases.info.nih.gov/diseases/4694/disease.
10. Atypical Rett syndrome 2009 [Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3095.
11. Rett Syndrome Diagnosis 2019 [Available from: https://www.rettsyndrome.org/about-rett-syndrome/rett-syndrome-diagnosis/.
12. What are the treatments for Rett syndrome? National Institute of Child Health and Human Development2016 [Available from: https://www.nichd.nih.gov/health/topics/rett/conditioninfo/treatments.
13. Rett syndrome 2016 [Available from: https://www.epilepsy.org.uk/info/syndromes/rett-syndrome.