Understanding Rett Syndrome: A Rare Neurodevelopmental Disorder

Rett syndrome (RS) is a rare and complex neurodevelopmental disorder that predominantly affects girls but can also occur in boys. It is a neurodevelopment disorder that has a typically degenerative course. Some individuals with this syndrome achieve and maintain some functional skills. As many as 60% of RS patients may retain their abilities to ambulate; the remainder lose ambulation or never walk because of atrophy, dystonia, and scoliosis.¹

Dr. Andreas Rett, a pediatrician in Vienna, Austria, first observed two girls exhibiting repetitive hand-washing motions in 1954. He documented their clinical and developmental similarities and published his findings in German medical journals in 1966. Around the same time, Dr. Bengt Hagberg, a Swedish child neurologist, also noticed similar symptoms in girls and began collecting case series.

RS is related to various mutations on the MECP2 gene, which codes for methyl-CpG binding protein-2 (MECP2). Recent studies suggest that MECP2 is expressed in neurons and glial cells and that it will someday be possible to reverse the disorder even after birth when behavioral symptoms occur.²

Signs and Symptoms

Rett syndrome progresses mainly through 4 stages¹.

• Stage I – Developmental arrest (6-18 months)

• Stage II – Rapid deterioration or regression (1-4 years)

• Stage III – Pseudostationary (2-10 years)

• Stage IV – Late motor deterioration (>10 years)

   

  Initially, affected children appear to develop normally, but then they experience a sudden loss of acquired skills. This is the most important differentiating feature of RS that differentiates it from other neurodevelopment disorders such as ASD, Intellectual Disability or Down’s syndrome. In other neurodevelopment disorders the symptoms start early and persist as the disorder progresses. Read more about the differentiating factors.

The sudden loss of already acquired skills which are key to RS starts to occur at around the age of 6 months and continues with a progressive course into adulthood.

Clinical Features

Regression and Loss of Skills:

RS typically manifests between 6 months and 2 years of age.

Purposeful hand movements, such as grasping and pointing, deteriorate, leading to stereotypic hand-wringing or repetitive movements.
Communication abilities decline, affecting speech and social interaction.

Motor Impairments:

Ataxia (lack of coordination) becomes evident, affecting balance and gait.
Breathing abnormalities, including hyperventilation and periodic apnea, are common.
Seizures may occur in a significant proportion of individuals with RS.

Microcephaly and Growth Issues:

Head growth decelerates, resulting in acquired microcephaly (small head size).
Growth retardation and scoliosis (abnormal curvature of the spine) are frequent.
Genetic Basis

The MECP2 Gene:

Mutations in the MECP2 gene are responsible for most cases of RS.
The MECP2 gene encodes a protein critical for brain development and function.
These mutations disrupt normal neuronal processes, leading to the characteristic symptoms.

Atypical Variants:

Some individuals with RS have mutations in other genes, such as CDKL5.
CDKL5-related RS often presents with early-onset seizures and severe developmental regression.

Research and Treatment

Challenges and Hope:

RS remains challenging due to its complexity and lack of a cure.
However, ongoing research aims to unravel the underlying mechanisms and identify potential therapeutic targets.

Supportive Care:

Early intervention is crucial. Therapies focus on maintaining quality of life and maximizing functional abilities.
Physical therapy, speech therapy, and occupational therapy play essential roles.
Adaptive devices assist with mobility and communication.

Future Directions:

Researchers explore gene therapies, neuroprotective agents, and novel interventions.
Clinical trials investigate potential treatments to alleviate symptoms and improve outcomes.

Read more:

Autism Spectrum Disorder | Psychology Nepal

Differences among Rett’s Syndrome, Tourette’s Syndrome, Autism and Down’s Syndrome: An Overview/

Understanding Rett Syndrome: A Rare Neurodevelopmental Disorder

Down Syndrome in Nepal | Psychology Nepal

References

1. Dfapa, B. E. B. D. D. (n.d.). Rett Syndrome: Practice Essentials, Background, Pathophysiology and Etiology. Retrieved from https://emedicine.medscape.com/article/916377-overview
2. Role of epigenetics in Rett syndrome. | Read by QxMD. (n.d.). Retrieved from https://read.qxmd.com/read/24059803/role-of-epigenetics-in-rett-syndrome?redirected=slug

The images Source: By Senorita666 – Own work, CC BY-SA 4.0, https://commons.wikimedia.org/w/index.php?curid=95043529