The quality of life in girls with Rett syndrome

Abstract

Nowadays, quality of life is receiving an increasing attention in all scientific areas. Rett syndrome (RTT) is a rare neurological development, affecting mainly females. The congenital disease affects the central nervous system, and is one of the most common causes of severe intellectual disability. The aim of our study is to evaluate the effect of RTT on the quality of life of people who are affected. Both parents of 18 subjects, all female, diagnosed with RTT, took part in the research. Quality of life was assessed using the Italian version of the Impact of Childhood Illness Scale. This scale consists of 30 questions that investigate the effect of illness on children, parents and families. For each question, the parent was asked to rate two variables: frequency and importance. Another questionnaire was administered to obtain medical history, diagnostic and therapeutic data of the persons with RTT. Our data show that RTT has a considerable impact on both the child’s development and the entire family. Parents’ answers demonstrated that their child’s illness had consequences for the child and how the family coped with it. For this reason, attention should be directed at psychological and social aspects, as well as attitudes, manners, reactions and effects such disturbances can have on the entire family.

Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers

“…Additional characteristic features include postnatal deceleration of head growth, motor abnormalities, gait posture ataxia, breathing dysfunction, with seizures and breathing disturbances being the most detrimental clinical phenotype in RTT (Smeets et al, 2012 ). Recent studies have evaluated the QOL in subjects with RTT and their caregivers using questionnaires such as the Italian version of the impact of childhood illness scale (Parisi et al, 2016 ). These studies have demonstrated a significant negative impact on both the child’s development and the entire family.…”

“…Recent studies have evaluated the QOL in subjects with RTT and their caregivers using questionnaires such as the Italian version of the impact of childhood illness scale (Parisi et al, 2016 ). These studies have demonstrated a significant negative impact on both the child’s development and the entire family.…”

Understanding intellectual disability and autism spectrum disorders from common mouse models: synapses to behaviour

“…Patients with RTT show cognitive deficits, which could be due to impairment in the synaptic functions [266–268]. Synaptic functions were altered in the MeCP2 mutant mouse models, consistent with the structural and behavioural alterations [277–279], thereby causing E/I imbalance.…”

“…Studies have shown that approximately 1 in 10 000 females is affected by RTT [266][267][268]. Studies on human patients between 7 and 18 months of age showed phenotypes of deteriorated higher cognitive and social functions, stagnancy of brain development, severe dementia, autism, ataxia and repetitive hand movements [266][267][268]. Constitutive MeCP2 hemizygous KO and conditional KO mouse models showed motor deficits such as improper gait, hindlimb clasping, irregular breathing [98] and microcephaly [98,269], and did not survive for more than 12 weeks after birth.…”

Qualidade de vida na pessoa com deficiência intelectual: percepção do indivíduo

“…Durante o levantamento bibliográfico foi possível observar que as pesquisas relacionadas à QV da população com DI, em sua maioria, tiveram como objetivos avaliar a QV referida pelas famílias da PcDI (KALAY et al, 2010;VAN GAMEREN-OOSTEROM et al, 2011;MORRISSE et al, 2013;PARISI et al, 2016) ou verificar a aplicabilidade e confiabilidade de protocolos (BREDEMEIER et al,, 2014;CANTORANI et al, 2015;. A QV dos atendentes pessoais de PCD's também foi avaliada em diversos estudos (JUHÁSOVÁ, 2015;PARISI et al, 2016). Foram encontrados poucos estudos investigando a QV referida pelo sujeito com DI e, alguns dos estudos encontrados, utilizaram entrevistas elaboradas pelos próprios pesquisadores (KALAY et al, 2010;EMERSON et.…”