Sleep and behavioral problems in Down syndrome: differences between school age and adolescence.

Background: Individuals with Down syndrome (DS) are at risk of developing sleep problems. In spite of the well-established knowledge on the presence of sleep difficulties in DS individuals and the associated emotional and behavioral problems, less is known about the possible differences in the kind of associations between sleep and emotional/behavioral problems across different age ranges. Methods: In this retrospective study, we included 289 participants with DS aged 6-18 years with the aims to explore differences in the distribution of sleep problems between specific age groups (school age vs. adolescence) and to identify specific age-based associations between sleep problems and emotional/behavioral problems. Results: Some differences in the distribution of sleep problems have emerged between age groups. Moreover, differences in the patterns of association between emotional/behavioral difficulties and sleep problems-in particular, sleep-related breathing difficulties and parasomnias-have been observed. However, sleep-wake transition disorders and excessive daily somnolence appear to be related to emotional and behavioral problems (both internalizing and externalizing), in general, across school age and adolescence. Discussion: These results remark the importance of appropriate neuropsychiatric and psychological evaluation taking into account the age-specific needs and features of individuals with DS.

Emotional and behavioral features associated with subclinical hypothyroidism in children and adolescents with Down syndrome.

Background: Subclinical hypothyroidism (SH) is particularly frequent in individuals with Down syndrome (DS). Despite the amount of evidence suggesting SH is associated with psychopathological symptoms and sleep problems in general population, poor is known about the emotional and behavioral features associated with SH in children with DS. Objective: The first aim of the current study was to investigate differences in emotional and behavioral profiles between a group of children with DS exhibiting co-occurring SH and a group of age and BMI-matched children with DS without co-occurring SH. The second aim of the present study was to investigate differences in sleep disturbances between these groups. Methods: We included in this retrospective study 98 participants with DS aged 3-18 years with the aim to explore differences in emotional/behavioral problems as well as in sleep difficulties between children with DS with or without co-occurring SH. Results: Participants with co-occurring SH exhibited significantly higher scores at several scales of the Conners' Parent Rating Scales Long Version - Revised. However, they did not exhibit more sleep problems than control group. Conclusion: These results provide specific indications for psychological and neuropsychiatric evaluation of children with DS with suspected or diagnosed SH, highlighting the importance of a multidisciplinary approach in clinical care for children and adolescents with DS.

Parental perspectives on the quality of life of children with Down syndrome.

Down Syndrome (DS) is the most common chromosome abnormality and the most frequent cause of developmental delay/intellectual disabilities in children. Although the investigation of the quality of life (QoL) is crucial in children with DS, relatively poor attention has been paid to this topic. The current study aimed to evaluate parent-reported QoL in a group of children with DS and identify children's individual and clinical features associated with different levels of QoL. We included in the study 73 children with DS (5-12 years) and investigated the parent-reported levels of QoL by means of the Pediatric Quality of Life Inventory. Cognitive level and the presence of behavioral difficulties were also evaluated. The overall parent-reported QoL of children with DS was high; emotional functioning was the domain with the highest level of QoL. Moreover, parents perceived low levels of QoL in children who exhibited low IQ, worse analogical reasoning, worse adaptive skills, more frequent challenging behaviors, more ritualistic/sameness behavior and more autistic symptoms. No differences emerged for family variables, namely parental education and employment, between the two groups with high and low QoL, as perceived by parents. The understanding of cognitive and behavioral factors - such as analogical reasoning, socio-communication abilities and challenging behaviors - related with different degrees of QoL in children with DS is crucial for the development of effective strategies to promote the improvement of the QoL.

Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.

Malan Syndrome (MS) is an ultra-rare overgrowth genetic syndrome due to heterozygous variants or deletions in the Nuclear Factor I X (NFIX) gene. It is characterized by an unusual facial phenotype, generalized overgrowth, intellectual disability (ID) and behavioral problems. Even though limitations in cognitive and adaptive functioning have been previously described, systematic studies on MS cohorts are still lacking. Here, we aim to define the cognitive and adaptive behavior profile of MS children and adolescents, providing quantitative data from standardized evaluations. Subjects included in this study were evaluated from October 2020 to January 2022 and the study is based on a retrospective data archive: fifteen MS individuals were recruited and underwent evaluation with Wechsler Intelligence Scales, Leiter International Performance Scales and Griffith Mental Development Scales for cognitive profiles and with Vineland Adaptive Behavior Scales-II Edition (VABS-II) for adaptive functioning. Language skills and visuomotor integration abilities were assessed too. Comparisons and correlations between scales and subtests were performed. All the assessed MS individuals showed both low cognitive and adaptive functioning. One subject presented with mild ID, five had moderate ID and eight showed severe ID. One female toddler received a diagnosis of psychomotor delay. Linguistic skills were impaired in all individuals, with language comprehension relatively more preserved. Results revealed significant differences between VABS-II subdomains and a strong relationship between cognitive and adaptive functioning. All subjects exhibited mild to moderate ID and adaptive behavior lower than normal, with communication skills being the most affected. Regarding the daily living skills domain, personal and community subscale scores were dramatically lower than for the domestic subdomain, highlighting the importance of considering behavior within developmental and environmental contexts. Our cognitive and adaptive MS characterization provides a more accurate quantitative MS profiling, which is expected to help clinicians to better understand the complexity of this rare disorder.

Retroperitoneal cysts: a case report.

Retroperitoneal cysts are rare lesions, variable from asymptomatic cases with incidental discovery to case with acute or chronic abdominal discomfort. A 50-year-old female after a car crash refered chronic abdominal pain. An X-ray revealed the presence of sternal and multiple costal fractures. Abdominal ultrasonography (US) and computed tomography (CT) lead to the discovery of a retroperitoneal cyst too. As the patient was well after fractures solution, we decided to control the cyst in the time. In symptomatic cases surgery is the treatment of choice. The advent of laparoscopic surgery allows resection of these cysts to be achieved without full laparotomy.