RESUMEN
Chromosomal microarray analysis (CMA) is typically performed for investigation of autism using blood DNA. However, blood collection poses significant challenges for autistic children with repetitive behaviors and sensory and communication issues, often necessitating physical restraint or sedation. Noninvasive saliva collection offers an alternative, however, no published studies to date have evaluated saliva DNA for CMA in autism. Furthermore, previous reports suggest that saliva is suboptimal for detecting copy number variation. We therefore aimed to evaluate saliva DNA for single nucleotide polymorphism (SNP) CMA in autistic children. Saliva DNA from 48 probands and parents (n = 133) was obtained with a mean concentration of 141.7 ng/µL. SNP CMA was successful in 131/133 (98.5%) patients from which we correlated the size and accuracy of a copy number variant(s) called between a proband and carrier parent, and for a subgroup (n = 17 probands) who had a previous CMA using blood sample. There were no discordant copy number variant results between the proband and carrier parent, or the subgroup, however, there was an acceptable mean size difference of 0.009 and 0.07 Mb, respectively. Our findings demonstrate that saliva DNA can be an alternative for SNP CMA in autism, which avoids blood collection with significant implications for clinical practice guidelines.
Asunto(s)
Trastorno Autístico , Niño , Humanos , Trastorno Autístico/diagnóstico , Trastorno Autístico/genética , Variaciones en el Número de Copia de ADN/genética , Saliva , Polimorfismo de Nucleótido Simple , Análisis por Micromatrices , ADNRESUMEN
Young people in OOHC have complex mental health concerns, therefore the South Western Sydney Local Health District (SWSLHD) has trialled a tiered model of mental health care. Under this model the OOHC mental health team (OOHC-MHT) provides specialist tier four service delivery for those with the most severe, intense mental health needs. OOHC consumers with a reduced level of severity access services at a tier three centre-based iCAMHS. This study aims to understand the characteristics of young people in OOHC accessing different service provision options in Sydney, Australia. Sixty-six OOHC consumers 8-17 years accessing mental health services across SWSLHD from January 2020-December 2021 participated in the study. Group differences in OOHC-MHT and iCAMHS outcome measures were compared. HoNOSCA scores were significantly worse for OOHC-MHT than iCAMHS, indicating more severe psychopathology for OOHC-MHT at baseline. In OOHC-MHT, HoNOSCA decreased significantly from admission to discharge and scores on the CGAS increased significantly, indicating significant improvements in psychopathology and functioning. In the iCAMHS group scores on the HoNOSCA significantly decreased indicating improved psychopathology over this period. These findings support a tiered model of service delivery for OOHC consumers, with this tailored level of care resulting in significantly improved outcomes across a range of complexity.
Asunto(s)
Servicios de Atención de Salud a Domicilio , Servicios de Salud Mental , Humanos , Adolescente , Australia , Salud Mental , Evaluación de Resultado en la Atención de SaludRESUMEN
Background: Despite advancements in the use of body mass index (BMI) to categorize obesity severity in pediatrics, its utility in guiding individual clinical decision making remains limited. The Edmonton Obesity Staging System for Pediatrics (EOSS-P) provides a way to categorize the medical and functional impacts of obesity according to the severity of impairment. The aim of this study was to describe the severity of obesity among a sample of multicultural Australian children using both BMI and EOSS-P tools. Methods: This cross-sectional study included children aged 2-17 years receiving obesity treatment through the Growing Health Kids (GHK) multi-disciplinary weight management service in Australia between January to December 2021. BMI severity was determined using the 95th percentile for BMI on age and gender standardized Centre for Disease Control and Prevention (CDC) growth charts. The EOSS-P staging system was applied across the four health domains (metabolic, mechanical, mental health and social milieu) using clinical information. Results: Complete data was obtained for 338 children (age 10.0 ± 3.66 years), of whom 69.5% were affected by severe obesity. An EOSS-P stage 3 (most severe) was assigned to 49.7% of children, the remaining 48.5% were assigned stage 2 and 1.5% were assigned stage 1 (least severe). BMI predicted health risk as defined by EOSS-P overall score. BMI class did not predict poor mental health. Conclusion: Used in combination, BMI and EOSS-P provide improved risk stratification of pediatric obesity. This additional tool can help focus resources and develop comprehensive multidisciplinary treatment plans.
RESUMEN
This article explores accruing evidence supporting the occurrence of an adult form of separation anxiety disorder (ASAD), a category yet to be recognized by international classification systems. ASAD can have its first onset in adulthood, although in a portion of cases, it represents a persistence or recurrence of the childhood-onset type. Recent large-scale clinic studies have suggested that ASAD is associated with high levels of disability. In addition, the presence of ASAD in individuals with anxiety disorders seems to signal a poor outcome to cognitive-behavioral therapy. The existing evidence suggests possible grounds for removing the childhood-onset requirement for the category of separation anxiety disorder, thereby allowing for first onset in adulthood. There is a pressing need to design and test appropriate treatments for ASAD and to educate clinicians to identify and manage the condition.