Characterisation of the clinical phenotype in Phelan-McDermid syndrome.

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.

[Factors related to the length of the corrected QT interval in patients treated with antipsychotics]. / Factores relacionados con la duración del intervalo QT corregido en pacientes tratados con antipsicóticos.

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.

Factores relacionados con la duración del intervalo QT corregido en pacientes tratados con antipsicóticos / Factors related to the length of the corrected QT interval in patients treated with antipsychotics

Fundamento y objetivo: La duración del intervalo QT corregido (QTc) se ha asociado con un aumento del riesgo de arritmias cardíacas y muerte súbita. Dicha duración se ha relacionado con la edad, la obesidad, el mal control glucémico y el uso de medicamentos, como los antipsicóticos. El objetivo de este estudio naturalístico y transversal ha sido evaluar los factores relacionados con la duración del intervalo QTc en pacientes en tratamiento antipsicótico. Pacientes y método: La duración del intervalo QTc (corregido mediante la fórmula de Bazett) se evaluó en 195 pacientes ­117 varones (60,0%) y 78 mujeres (40,0%)­ con una edad media (desviación estándar) de 28,4 (17,3) años (extremos: 12-84), que recibían tratamiento antipsicótico y estaban ingresados en unidades de hospitalización psiquiátrica. Resultados: La mayor edad (p < 0,001) y el sexo femenino (p = 0,006) fueron los 2 únicos factores asociados con una mayor duración del intervalo QTc. El diagnóstico, el tipo de antipsicótico, la dosis de éste, el consumo de tabaco o los antecedentes de enfermedad cardiovascular no se relacionaron con la duración del intervalo QTc. Solamente un varón con QTc de 455 ms tuvo un intervalo QTc de duración patológica (> 450 ms en varones y > 470 ms en mujeres). Conclusiones: Los factores de riesgo asociados a una mayor duración del intervalo QTc son equivalentes a los hallados en estudios previos con pacientes sin tratamiento antipsicótico

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

Risk factors for respiratory disease in chronic psychiatric in patients

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Objective: Individuals with schizophrenia and other chronic mental illnesses present a series of risk factors, that predispose them to extensive medical comorbidity. The aim of this study was to determine the risk factors for respiratory disease inchronic psychiatric inpatients. Methods: All patients at a long-term mental institution were invited to participate in this study. Socio-demographic data, tobacco and alcohol consumption, respiratory symptoms and chest x-rays were collected from 154 patients. Sputum microscopy and cultures for M. tuberculosis were done in specific cases. Results: The symptoms reported were cough (58%); expectoration (44.2%); dyspnea(28.6%); hemoptysis (9.7%), and chest pain (20.1%). There were chest x-ray changes in 57.1% of patients. These were suggestive of chronic obstructive pulmonary disease (COPD) in 31.2% and an interstitial pattern in 19.1%. The prevalence of tuberculosis in this sample was 4.5%. Schizophrenia was the most common mental illness (43.5%), followed by an organic mental disorder (32.5%). We found a positive relationship between schizophrenia and cigarette smoking (odds ratio 2.30, 95% CI 1.11 to 4.76), and schizophrenia and x-ray changes (odds ratio 2.35, 95% CI 1.15 to 4.83). There was no significant relationship with other psychiatric disorders (AU)