Rett syndrome is an intermittent progressive disorder of the nervous system that results from a non-inherited genetic mutation (Mellios & Sur, 2018). This syndrome leads to impaired cognitive and physical development exclusively affecting girls. Purine nucleoside phosphorylase (PNP) deficiency is also a disorder that is associated with the immune system characterized by neurologic symptoms and recurrent infections. When making a diagnosis, the main factors that are considered include the patient’s symptoms, medical history, laboratory test, and the physical exam. In consideration of such factors, PNP would diagnose the Rett syndrome and the resulting long-term needs for the respective child.
Rett syndrome is mainly diagnosed by a physical exam, a child’s medical history and detailed information on the child’s development (Mellios & Sur, 2018). The factors considered for the diagnosis of Rett syndrome are similar to the factors necessary for the PNP. Consequently, a diagnosis of PNP would help in the diagnosis of the Rett syndrome as well. Among the symptoms associated with PNP deficiency include intellectual disability, uncoordinated movements and spasticity (rigid or stiff muscles). Cognitive impairment, a Rett syndrome symptom is associated with intellectual disability, a symptom associated with PNP. In addition, Stereotypic hand movements might be a result of spasticity that is a PNP symptom. Most of the Rett syndrome symptoms are closely related with the PNP deficiency hence making PNP reliable in diagnosing of Rett syndrome.
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Additionally, most of the symptoms associated with the Rett syndrome are diagnosed through a physical exam that entails making observations. PNP would be effective in the diagnosis of a child’s long-term needs for the Rett syndrome since healthcare professionals employ physical exam for the diagnosis of the same (Mellios & Sur, 2018). Moreover, the similarity of the symptoms might help in the determination of the child’s long-term needs for the Rett syndrome. Lastly, the medical history obtained for PNP deficiency would be necessary for determining the long-term needs for the Rett syndrome as well.
Reference
Mellios, N., & Sur, M. (2018). Rett syndrome: insights into genetic, molecular and circuit mechanisms. Nature Reviews Neuroscience , 19 (6), 368.
