Primary care of a child with Rett syndrome

Abstract

Purpose To discuss the history, incidence, pathophysiology, diagnostic criteria, disease staging, clinical presentation and physical exam findings, and role of the primary care provider (PCP) as they pertain to care for a child with Rett syndrome (RS). Data sources Review of published literature on and diagnostic criteria of RS. Conclusions RS is a devastating X‐linked neurodevelopmental disorder that affects females and a small percentage of males. RS is characterized by stereotypic wringing hand movements, social withdrawal, communication dysfunction, cognitive impairment, respiratory dysfunction, and failing locomotion. Diagnosis is generally made clinically despite available genetic testing. Advances in research have been beneficial; however, the pathophysiology of RS has proven to be elusive. RS is a complex disease that involves multiple organ systems. Implications for practice PCPs need to be aware of how to manage RS patients if they present to the primary care office, and need to be prepared to diagnose RS early, provide appropriate interventions and referrals, understand the challenges, and understand the goal of treatment. They also should be able to provide continuity of care, provide anticipatory guidance, and engage in shared decision with families and patients.

TRP Channels in Neuronal and Glial Signal Transduction

“…RTT is caused by heterozygosity for mutations in the X-linked gene MECP2, which encodes methyl-CpG binding protein 2. Rett syndrome patients suffer from stereotypic wringing hand movements, social withdrawal, communication dysfunction, cognitive impairment, respiratory dysfunction as well as failing locomotion [123]. MeCP2 regulates expression of multiple genes, including BDNF.…”

The quality of life in girls with Rett syndrome

“…Rett syndrome (RTT) is a progressive neurodevelopmental disorder that tends to affect mainly girls during the first years of life, after a period of apparent normality: it is a disease that is the second leading cause of intellectual disability in girls, with an estimated incidence of one in 10,000 females born. 1-5 After seemingly normal development in the first/second year of life, the disease is manifested by a gradual loss of language and manual skills, accompanied by hand stereotypies, acquired microcephaly, growth slowdown, epilepsy, ataxia, respiratory disorders (hyperventilation and apneas). Sleep disturbances and increase of total sleep time or numerous night awakenings can be also showed.…”

The quality of life in girls with Rett syndrome

“…Rett syndrome (RTT) is a progressive neurodevelopmental disorder that tends to affect mainly girls during the first years of life, after a period of apparent normality: it is a disease that is the second leading cause of intellectual disability in girls, with an estimated incidence of one in 10,000 females born. [1][2][3][4][5] After seemingly normal development in the first/second year of life, the disease is manifested by a gradual loss of language and manual skills, accompanied by hand stereotypies, acquired microcephaly, growth slowdown, epilepsy, ataxia, respiratory disorders (hyperventilation and apneas). Sleep disturbances and increase of total sleep time or numerous night awaken-ings can be also showed.…”