Impact Of Rett Syndrome On Child Development

 

Rett Syndrome is a rare genetic neurodevelopmental disorder that affects brain development, leading to severe mental and physical disability. It primarily affects only girls with a prevalence of 1 in every 10, 000 girls. Its profound impact on affected individuals necessitates a comprehensive understanding and implementation of supportive interventions. What are the causes of Rett Syndrome (RS)? Rett Syndrome (RS) is caused by mutations in the MECP2 gene, which is responsible for regulating general expression in the brain. This mutation leads to deficiency of the MECP2 protein, causing widespread disruption of brain development and function. 

RS' identification clues are as follows:

1. Delayed development:

Slowed or delayed development of motor skills, language, and cognitive abilities

2. Loss of hand-use: 

Loss of purposeful hand movements and replacements with stereotypic hand movements ( for example, hand wringing)

3. Gait abnormalities: 

Abnormal gait patterns, including ataxia and apraxia

4. Seizures: 

Recurrent seizures, which may begin in early childhood

5. Breathing disturbances: 

Abnormal breathing patterns, including hyperventilation and apnea

The impact of Rett Syndrome are as follows:

1. Severe intellectual disability: 

RS causes significant impairment in cognitive abilities, including language, problem-solving, and learning skills.

2. Motor dysfunction:

RS causes severe impairment in motor skills, including walking, jumping, hand-use, and coordination. 

3. Communication difficulties:

RS causes profound impairment in verbal and nonverbal communication.

4. Emotional and behavioral challenges:

It causes anxiety, depression, fear, and behavioral difficulties such as screaming, self-inflicted injuries, and aggression. Children living with RS usually hit their heads against walls and tables when they are at homes and classrooms. 

Find below some girls affected by RS across the world:

1. Hannah Jones (USA):

She was diagnosed with RS at the age of two. Her story highlights the importance of early diagnosis and intervention.

2. Maja Milovanovic (Serbia): 

Maja's family has advocated for Rett Syndrome awareness creation, and support in Serbia, showcasing the need for international efforts. 

3. Emily Chen (China):

Emily Chen's story illustrates the myriad of challenges faced by families in China, where RS is not well known, often misdiagnosed or undiagnosed due to lack of appropriate knowledge of RE symptoms and diagnosis equipment. The characteristics of most neurodevelopmental disorders appear to be similar whereas they are not. Therefore, it requires the involvement of expert neurologists and  the right diagnostic equipment to identify their differences from the early stage, before beginning to look for interventions. Without thorough identification and accurate diagnosis, a child affected by TS or any other neurodevelopmental disorder may be wrongly treated with medications meant for other neurodevelopmental disorders, without any solution in sight. 

4. Lily Rose (UK): 

Lily Rose's family has been instrumental to raising awareness about RS in UK, highlighting the importance of early identification and community support.

5. Aishwarya Rao (India):

Aishwarya's story showcases the resilience of girls with Rett Syndrome and their families in India, where access to healthcare and support services can be limited. 

6. Sophie Dupont (France):

Sophie Dupont's family has advocated for Rett Syndrome's researc and awareness in France, demonstrating the importance of early identification and international collaboration. 

7. Yara Alvarado (Brazil): 

Yara Alvarado's story depicts the challenges faced by individuals with RS and their families in Brazil, where RS is often misunderstood for another neurodevelopmental disorder, and stigmatized.

8. Amira Ali ( Egypt): 

Amira Ali's family has lifted a red flag against RS by unflinchingly engaging in awareness creation campaigns against RS in Egypt, showcasing the need for cultural sensitivity and mitigating RS.

The above examples of RS affected individuals illustrate the global impact of Rett Syndrome and the importance of international efforts, capacity-building, and advanced research. Rett Syndrome is characterized by:

1. Abnormal brain structure:

Reduced brain volume, particularly in the cerebral cortex and hippocampus

2. Disrupted neuronal functions:

Impaired neuronal communication and synaptic plasticity

3. Altered gene expression: 

Widespread disruption of gene expression, particularly in genes involved in neuronal development and functions

Rett Syndrome interventions and support measures:

While there is no clear-cut cure for RS, various interventions and support measures can help manage symptoms and improve quality of life:

1. Physical therapy:

To improve motor function and mobility

2. Occupational therapy:

To enhance daily living skills and dependence

3. Speech and language therapy: 

To address emotional and behavioral challenges

4. Medications: 

To manage seizures, anxiety, and other symptoms associated with RS

Some international agencies have made efforts to mitigate RS across the world. They include:

1. World Health Organization (WHO):

It recognizes RS as a rare genetic disorder and provides guidance on diagnosis and management.

2. International Rett Syndrome Association ( IRSA): 

It provides support, education, and advocacy for females affected by RS.

3. Rett Syndrome Research Trust ( RSST): 

It provides funds for research into the causes of and treatment of Rett Syndrome.

4. National Institute of Health (NIH): 

It funds research into the causes of RS and its treatment and prevention measures, as well as providing resources and support for individuals and families affected by RS disorder. 

In conclusion, Rett Syndrome presents a complex array of challenges that demand for a multidisciplinary approach to management, and through continued research, advocacy, and support, we can improve the quality of lives of individuals with Rett Syndrome and their families.

Please, kindly share this post with your friends and loved ones. Many people are suffering from Rett Syndrome without knowing its symptoms. They can't know it without being informed! Thank you.