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Rett Syndrome is a neurodevelopmental disorder that almost exclusively affects girls (National Institute of Neurological Disorders and Stroke [NINDS], 2020). Rett syndrome is characterized by normal early growth and development, followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability (NINDS, 2020). Rett Syndrome is a rare disease, affecting 1 in every 10,000 to 15,000 newborn females worldwide.
Rett Syndrome is a rare genetic neurological and developmental disorder that affects how the brain develops, resulting in the progressive loss of developmental milestones, intellectual disability, breathing abnormality, motor skills, and speech (Yang et al., 2019). Mutations in the X-linked gene methyl-cytosine-binding protein 2 (MECP2) occur among individuals with Rett Syndrome (Kyle et al., 2018). MECP2 is located on the X-chromosome and controls the functions of several other genes (NINDS, 2020). MECP2 is necessary for brain development and acts as a biochemical switch that can either increase gene expression or direct other genes to turn off and end the production of their unique proteins (NINDS, 2020). Since the gene encoding of MECP2 occurs on the X-chromosome, the disease occurs predominately among females heterozygous for MECP2 mutations (Yang et al., 2019). Among individuals with Rett Syndrome, the inefficient functioning of the MECP2 gene results in the abnormal expression of other genes (Ehinger et al., 2018; NINDS, 2020).
Signs and Symptoms
In Rett Syndrome, common signs and symptoms that reflect the main diagnostic criteria include:
· Partial or complete loss of acquired purposeful hand skills (NINDS, 2020).
· Partial or complete loss of acquired spoken language (NINDS, 2020).
· Repetitive hand movements include hand wringing or squeezing, clapping, or rubbing (NINDS, 2020).
· Gait abnormalities, including toe walking, and an unsteady, wide-based, stiff-legged walk (NINDS, 2020).
Other signs and symptoms of Rett Syndrome may include (NINDS, 2020):
· Small, cold hands and feet in relation to height
· Abnormal sleep patterns
· Abnormal muscle tone
· Inappropriate laughing or screaming
· Intense eye communication
Diminished response to pain
The clinical diagnosis of Rett Syndrome occurs by observing signs and symptoms congruent with this syndrome during the child’s early growth and development, and while conducting ongoing evaluations of the child’s physical and neurological status (Kyle et al., 2018; NINDS, 2020). Characteristic symptoms include loss of acquired speech and motor skills, repetitive hand movements, breathing irregularities, and seizures (Kyle et al., 2018). Sporadic episodes of gastrointestinal problems, hypoplasia, early-onset osteoporosis, bruxism, and screaming spells may also present among individuals with Rett Syndrome (Kyle et al., 2018).
A genetic test that searches for the MECP2 mutation on the child’s X-chromosome can complement the clinical diagnosis (NINDS, 2020). The use of a highly specific test set of guidelines takes place to identify three types of clinical criteria: main, supportive, and exclusion (Bhandari et al., 2019; NINDS, 2020). Exclusion criteria for a Rett Syndrome diagnosis include a brain injury secondary to trauma, neuro-metabolic disease, severe infection contributing to neurobiological problems, and grossly abnormal psychomotor development in the first 6-months of life (NINDS, 2020).
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