RESUMO
BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic disorder compromising the 22q13 terminal region and affecting SHANK3, a gene crucial to the neurobehavioural phenotype and strongly linked to autism (ASD) and intellectual disability (ID). The condition is characterised by global developmental delay, ID, speech impairments, hypotonia and autistic behaviours, although its presentation and symptom severity vary widely. In this study, we provide a thorough description of the behavioural profile in PMS and explore differences related to deletion size and language ability. METHODS: We used standard clinical assessment instruments to measure altered behaviour, adaptive skills and autistic symptomatology in sixty participants with PMS (30 females, median age 8.5 years, SD=7.1). We recorded background information and other clinical manifestations and explored associations with deletion size. We performed descriptive and inferential analyses for group comparison. RESULTS: We found delayed gross and fine motor development, delayed and impaired language (~70% of participants non or minimally verbal), ID of different degrees and adaptive functioning ranging from severe to borderline impairment. Approximately 40% of participants experienced developmental regression, and half of those regained skills. Autistic symptoms were frequent and variable in severity, with a median ADOS-2 CSS score of 6 for every domain. Sensory processing anomalies, hyperactivity, attentional problems and medical comorbidities were commonplace. The degree of language and motor development appeared to be associated with deletion size. CONCLUSIONS: This study adds to previous research on the clinical descriptions of PMS and supports results suggesting wide variability of symptom severity and its association with deletion size. It makes the case for suitable psychotherapeutic and pharmacological approaches, for longitudinal studies to strengthen our understanding of possible clinical courses and for more precise genomic analysis.
Assuntos
Transtorno do Espectro Autista , Transtornos Cromossômicos , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/genética , Criança , Deleção Cromossômica , Transtornos Cromossômicos/complicações , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 22 , Feminino , Humanos , FenótipoRESUMO
BACKGROUND AND OBJECTIVE: The length of the heart-rate corrected QT interval (QTc) has been associated with an increased risk of cardiac dysrhythmia and sudden death. QTc length has been related to age, obesity, poor glycemic control, and use of drugs, such as antipsychotic medications. The objective of this cross-sectional naturalistic study was to assess the factors associated with QTc length in patients treated with antipsychotics. PATIENTS AND METHOD: Bazett's formula for heart-rate correction was used to compute the corrected QT in 195 psychiatric inpatients treated with antipsychotics -117 males (60.0%), 78 females (40.0%); age (standard deviation): 28.4 (17.3) years (range: 12-84)-. RESULTS: Older age (p < 0.001) and female gender (p = 0.006) were the only factors significantly related to longer QTc interval. Diagnosis, type of antipsychotic, dosage of antipsychotic, tobacco use, and cardiovascular history were not related to QTc length. Only one male patient with QTc = 455 had a pathological QTc length (females > 470 ms, males > 450 ms). CONCLUSIONS: Factors related to QTc length in patients treated with antipsychotics are equivalent to those found in previous studies in patients not treated with antipsychotics.