Rett Syndrome

Rett Syndrome (RS) is a genetic mutation that primarily affects girls. The neurodevelopmental disorder affects almost every aspect of a child’s life – the ability to speak, walk, breathe, and eat. Developmental regression is mainly noticeable during the rapid destructive phase (between 1- 4 years) when the child loses multiple skills quickly, including speech and voluntary hand movements (Chattopadhyay & Arora, 2014). The child starts to experience breathing difficulties and loses the ability to use hands purposefully. RS is estimated to have a prevalence rate ranging from 1:10000 to 1:22000 and is only rarely found in males (Chattopadhyay & Arora, 2014). Some places such as India have reported low cases of RS, and the hypothesis is that the disorder may either be under-diagnosed or misdiagnosed as autism or cerebral palsy. Nevertheless, the authors assert that early diagnosis of the rare genetic disorder is emphasized along with appropriate treatment of the patient to alleviate pain and suffering.

In an attempt to demonstrate the various aspects of RS in a child, the authors use a case study of a girl aged 4.5 years old. The child was checked into the OPD by her mother after noticing her child was suffering from decayed upper front teeth in the preceding six months. The mother could not understand why her child was experiencing RS-related symptoms, yet she had a normal delivery, no medical conditions, and taken no medication while expectant. She was in distress that her child’s development was slowing down to regression levels. On quick analysis, the Out Patient Department revealed that the girl had persistent stereotypic hand movements. She clenched her fingers tight to cause tears on her phalangeal joints. Secondly, the girl had lost the ability to perform purposeful hand functions such as touching.  Her speech was limited to just a few words – a decline from her first three years when she spoke better. Third, the girl could neither sit nor make eye contact. Additionally, she looked weak because she was not able to eat properly and manifested signs associated with autism. RS has potentially adverse effects on the family. The girl’s mother seems to have been affected by her child’s pain. During the first visit, she allowed the physician to…….

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