The Role of Neurophysiology in the Treatment of Rett Syndrome
Rett syndrome, named after Dr. Andreas Rett (Briggs,2014) who first identified the condition, is a severe neurodevelopment disorder characterized by compromised brain functions, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements, and developmental regression (Liyanage & Rastegar, 2014). The high prevalence of Rett syndrome in small children and the associated developmental regression have supported the fact that Rett syndrome is a neurodevelopmental disorder. However, recent studies on adult mice with Rett syndrome suggest that it is a neurological disorder rather than a neurodevelopmental disorder. A neurodevelopmental disorder …show more content…
They experience stunted growth, low weight, and smaller head circumference. During the first 2 years of life females undergo a deceleration of linear growth and weight decreases as well in proportion to height. Height and weight for girls with Rett syndrome typically falls below the expected height and weight for girls of their age (Smeets, Pelc, & Dan, 2012). Chahrour and Zoghbi (2007) warn that one of the early indicators of Rett syndrome is the deceleration of head growth, which leads to microcephaly, a condition where a patient’s head is significantly smaller than normal for their age and sex. Signs of microcephaly do not normally appear until the child’s second year of life. Although microcephaly is common in patients with Rett syndrome it is no longer essential for a diagnosis. Recent data on Rett syndrome patients shows that patients can have Rett syndrome but the circumference of their head is considered normal for their age. Therefore, the decline in head growth may be very obvious in classical cases of Rett, but it may not be present at all in atypical cases of Rett. Therefore, microcephaly is no longer an essential criterion for a Rett syndrome diagnosis (Smeets et al., …show more content…
Molecular testing does have the potential to lead to an early confirmation of Rett syndrome in an infant girl. Molecular testing would identify any MECP2 gene mutation. There are more than 200 different MECP2 mutations and in patients with classic Rett syndrome there is a 90% detection rate (Smeets et al., 2012). Often patients diagnosed with Rett syndrome show symptoms of autism and it is not unlikely that a patient could have both autism and Rett syndrome. Younger patients with Rett syndrome or intellectual disabilities actually have a higher likelihood to have a false diagnosis where their Rett syndrome symptoms are confused with autism and lead to a misdiagnosis (Briggs, 2014). The primary form of diagnosis for Rett syndrome is still based off of the previously listed symptoms and then some form of molecular testing may
Rett syndrome, named after Dr. Andreas Rett (Briggs,2014) who first identified the condition, is a severe neurodevelopment disorder characterized by compromised brain functions, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements, and developmental regression (Liyanage & Rastegar, 2014). The high prevalence of Rett syndrome in small children and the associated developmental regression have supported the fact that Rett syndrome is a neurodevelopmental disorder. However, recent studies on adult mice with Rett syndrome suggest that it is a neurological disorder rather than a neurodevelopmental disorder. A neurodevelopmental disorder …show more content…
They experience stunted growth, low weight, and smaller head circumference. During the first 2 years of life females undergo a deceleration of linear growth and weight decreases as well in proportion to height. Height and weight for girls with Rett syndrome typically falls below the expected height and weight for girls of their age (Smeets, Pelc, & Dan, 2012). Chahrour and Zoghbi (2007) warn that one of the early indicators of Rett syndrome is the deceleration of head growth, which leads to microcephaly, a condition where a patient’s head is significantly smaller than normal for their age and sex. Signs of microcephaly do not normally appear until the child’s second year of life. Although microcephaly is common in patients with Rett syndrome it is no longer essential for a diagnosis. Recent data on Rett syndrome patients shows that patients can have Rett syndrome but the circumference of their head is considered normal for their age. Therefore, the decline in head growth may be very obvious in classical cases of Rett, but it may not be present at all in atypical cases of Rett. Therefore, microcephaly is no longer an essential criterion for a Rett syndrome diagnosis (Smeets et al., …show more content…
Molecular testing does have the potential to lead to an early confirmation of Rett syndrome in an infant girl. Molecular testing would identify any MECP2 gene mutation. There are more than 200 different MECP2 mutations and in patients with classic Rett syndrome there is a 90% detection rate (Smeets et al., 2012). Often patients diagnosed with Rett syndrome show symptoms of autism and it is not unlikely that a patient could have both autism and Rett syndrome. Younger patients with Rett syndrome or intellectual disabilities actually have a higher likelihood to have a false diagnosis where their Rett syndrome symptoms are confused with autism and lead to a misdiagnosis (Briggs, 2014). The primary form of diagnosis for Rett syndrome is still based off of the previously listed symptoms and then some form of molecular testing may