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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]:

• Hanefeld variant (early-onset seizure type) : Characterized by seizures in the first months of life with later development of features.
• Rolando variant (congenital variant): The most severe form of atypical RTT syndrome, characterized with classic RTT features during the first three months of life.
• Forme Fruste variant:A milder form of atypical RTT syndrome, with onset in early childhood and an incomplete and prolonged course.
•  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.
• 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],

• Physical therapy: To improve/ maintain mobility and balance, provide weight-bearing training for patients with scoliosis
• Occupational therapy: To reduce stereotypic hand movement, improve/ maintain use of hands, and help develop skills needed for performing self-directed activities
•  Speech-language therapy: To facilitate nonverbal communication and social interaction
• Feeding assistance: Calcium and mineral supplements, high-calorie, high-fat diet, feeding tube
•  Physical assistance: Braces or surgery for scoliosis, splints
•  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.