RESUMO
STUDY OBJECTIVES: Sleep disturbances are common in neurodevelopmental disorders (NDDs), affecting patients and caregivers' quality of life. SYNGAP1-associated syndrome, a rare NDD, is marked by intellectual disability, developmental delay, epilepsy, and sleep issues. However, research on sleep quality in these individuals is limited. This study aimed to evaluate genetic variants, epilepsy, and sleep patterns in SYNGAP1-associated syndrome patients and their caregivers. METHODS: An online survey was applied to 11 caregivers of individuals diagnosed with SYNGAP1-associated syndrome. Specific clinical inquiries were included, addressing childbirth, previous surgeries, and medication use. Inquiries about epilepsy included type of epilepsy, type and frequency of seizures, anti-seizure medications, and complementary non-pharmacological treatments. Children's Sleep Habits Questionnaire (CSHQ) was applied to assess the patients' sleep profile. Pittsburgh Sleep Quality Index (PSQI) was used to evaluate the sleep quality of caregivers. RESULTS: Genetic analysis showed heterozygous mutations in SYNGAP1, often leading to loss of function. Epilepsy was present in 82% of participants, with 77.8% having drug-resistant seizures. Using the Children's Sleep Habits Questionnaire (CSHQ), 81.8% of patients exhibited poor sleep habits, including bedtime resistance, anxiety, night awakenings, parasomnias, and daytime sleepiness. Caregivers also reported poor sleep quality according to the Pittsburgh Sleep Quality Index (PSQI). CONCLUSIONS: This study highlights the high prevalence of epilepsy and sleep problems in SYNGAP1-associated syndrome, impacting both patients and caregivers. Further research is crucial to understand the syndrome's effects on sleep disturbances, emphasizing the need for targeted interventions to improve sleep quality in individuals with rare genetic syndromes and their caregivers.
Assuntos
Síndrome de Cri-du-Chat , Humanos , Projetos Piloto , Síndrome de Cri-du-Chat/complicações , Síndrome de Cri-du-Chat/fisiopatologia , Síndrome de Cri-du-Chat/diagnóstico , Masculino , Feminino , Criança , Pré-Escolar , Transtornos do Sono-Vigília/etiologia , Transtornos do Sono-Vigília/fisiopatologia , Transtornos do Sono-Vigília/diagnóstico , Adolescente , Polissonografia , Sono/fisiologiaRESUMO
This study focuses on the cross-cultural adaptation of the Emotional Outburst Questionnaire (EOQ) to Brazilian Portuguese and preliminarily assesses its predictive validity. The EOQ evaluates aspects of emotional outbursts (EO), including frequency, duration, intensity, types, associated behaviours, recovery time, triggers, and effectiveness of calming strategies. Two independent translators performed the translation, with subsequent synthesis and analysis revealing that only 33 items (24.81%) required revision. Among these, one item needed partial modification, and two needed total modification. The study demonstrated strong content validity and adaptation in terms of conceptual, idiomatic, and semantic aspects. The EOQ's predictive validity was assessed by analysing the interruption of mental health services in Brazil due to Covid-19 (T1) compared to when services resumed after social distancing measures were lifted (T2). Parents of 25 individuals with developmental disabilities (ASD, DS and ID), with a mean of 11 y/o, mostly male (76%), completed the EOQ. Service interruption during T1 led to increased frequency and duration of severe emotional outbursts reported by caregivers compared to T2 (frequency: p < .001; duration: p = 0.05). This suggests that the EOQ exhibits predictive validity and sensitivity to changes influenced by individual contexts. These findings highlight the EOQ's potential as an outcome measure for intervention development.
Assuntos
Emoções , Transtornos do Humor , Humanos , Masculino , Feminino , Brasil , Psicometria , Pessoal Técnico de SaúdeRESUMO
A violência doméstica vem ocorrendo de forma crescente atualmente, causando sofrimento a muitas mulheres que vivenciam essa situação cotidianamente. Na maioria dos casos, a denúncia nem sempre é realizada e, quando é, a vítima retira a denúncia pouco tempo depois devido à dependência financeira e/ou afetiva do agressor, entre outros motivos. Perante o aumento desses casos, se faz necessário um atendimento psicossocial, no qual essa realidade possa ser transformada, tornando a mulher agredida uma pessoa que não se submeta a essa violência tão passivamente, tenha maior autocuidado, autonomia e autoconhecimento. Observando a relevância dessa modalidade de intervenção, para mulheres vítimas de violência doméstica, este trabalho tem a intenção de trazer formas mais eficazes de promover a saúde física e mental dessas mulheres, a partir de um panorama geral do que é esse atendimento psicossocial e de como ele pode ser modificado ou melhorado de forma viável e que consiga alcançar o objetivo de oferecer bem-estar, proteção, informação, elevar a autoestima e desenvolver a autonomia dessas mulheres. (AU)
Cases of domestic violence are growing, causing distress to women who experience this situation on daily bases. In most cases, the notification is not performed or the victim withdraws the complaint shortly afterwards. Womens reluctance to report assaults by their male partners has been attributed to economic and psychological dependence, among other reasons. Psychosocial care is of utmost necessity in this reality, to strength the woman; increase her autonomy, self-esteem and self- knowledge. This study intends to present effective ways to promote physical and mental health of these women, from an overview of what psychosocial treatment is, and how it can provide wellbeing, protection, information, autonomy to these women. (AU)