The contribution of medical burden to 22q11.2 deletion syndrome quality of life and functioning.
Genetics in medicine : official journal of the American College of Medical Genetics
To date, there is no systematic method to quantify the medical burden of individuals with 22q11.2 deletion syndrome (22q11.2DS). This study aimed to design a Medical Burden Scale (MBS) for 22q11.2DS to evaluate the effect of medical symptoms severity on quality of life (QoL) and functioning in individuals with this syndrome.Individuals with 22q11.2DS (n=76) were included in the study. A multidisciplinary group of physicians determined the severity of symptoms (on a scale of 0 to 4) of eight major medical systems affected in 22q11.2DS, as well as the level of cognitive deficits and psychiatric morbidity. Regression models were used to evaluate the impact of medical, cognitive, and psychiatric symptoms' severity on global assessment of functioning (GAF) and QoL.The total MBS score was significantly associated with both QoL and GAF scores, beyond the effect of the psychiatric and cognitive deficits. We also found that QoL and GAF scores were associated with the severity scores of specific medical systems, particularly neurological symptoms, but also cardiovascular, ear-nose-throat, endocrinology, and orthopedics.Quantifying the medical burden of 22q11.2DS individuals is feasible and indicates the overall and specific contribution of medical symptoms to QoL and functioning of 22q11.2DS individuals.
View details for DOI 10.1016/j.gim.2023.100924
View details for PubMedID 37422717
A 16-month longitudinal investigation of risk and protective factors for mental health outcomes throughout three national lockdowns and a mass vaccination campaign: Evidence from a weighted Israeli sample during COVID-19.
2023; 323: 115119
BACKGROUND: COVID-19 is an ongoing global crisis, with a multitude of factors that affect mental health worldwide. We explored potential predictors for the emergence and maintenance of depression, anxiety, and posttraumatic stress symptoms (PTSS) in the general population in Israel.METHODS: Across the span of 16 months, 2478 people completed a repeated self-report survey which inquired psychiatric symptoms and pandemic related stress factors (PRSF). We applied mixed-effects models to assess how each stressor contributes to depression, anxiety and PTSS at each time point, and longitudinally assessed participants who completed at least two consecutive surveys (n=400). We weighted our sample to increase representativeness of the population.RESULTS: Fatigue was the strongest predictor for depression, anxiety and PTSS at all time points, and predicted deterioration overtime. Financial concerns associated with depression and anxiety at all time points, and with their deterioration overtime. Health related concerns were uniquely associated with anxiety and PTSS at all time points and their deterioration, but not with depression. Improvement in sense of protection overtime associated with decrease in depression and anxiety. Hesitancy towards vaccination was associated to higher financial concerns and lower sense of protection by the authorities.CONCLUSIONS: Our findings accentuate the multitude of risk factors for psychiatric morbidity during COVID-19, and the centrality of fatigue in determining mental health outcomes.
View details for DOI 10.1016/j.psychres.2023.115119
View details for PubMedID 36881950
The emotional-behavioral state of Israeli adolescent and young adult females with anorexia nervosa during the COVID19 pandemic
JOURNAL OF EATING DISORDERS
2022; 10 (1): 145
During the COVID-19 pandemic in Israel, the number of patients with eating disorders (EDs) seeking treatment increased significantly. The present study sought to evaluate whether, during the pandemic (2020-21), patients with anorexia nervosa (AN) would show more ED-related, comorbid, and COVID-19-related symptoms in comparison to a naturalistic control group, and whether differences would be found between adult and adolescent patients with AN. We also examined attitudes to telemedicine use during the pandemic in patients receiving long-distance interventions.Using online self-report questionnaires, we assessed general and COVID-19-specific symptoms with a secure digital platform (REDCap®) in 36 female adolescents with AN, 35 female adults with AN, and 25 female controls.Compared with controls, patients with AN showed more symptoms of EDs, anxiety, depression, and post-traumatic stress disorder (PTSD), elevated suicidal ideation, more COVID-related emotional-behavioral disturbances, and lower resilience. Adult patients with AN fared worse than adolescent patients on most of these measures. Adult patients using telemedicine during the COVID-19 pandemic showed fewer positive attitudes toward this treatment than adolescents (telemedicine was offered to all, but used by 18/35 adolescents and 21/36 adults with AN). Last, elevated COVID-19-related symptomatology was correlated with more symptoms of ED, anxiety, depression and PTSD, and with lower resilience.Our findings suggest that the emotional-behavioral state of Israeli females with AN, particularly adults, was worse during the COVID-19 pandemic in comparison to controls. Many patients did not use telemedicine for their treatment. Adult patients using telemedicine were less satisfied with it than adolescent patients.
View details for DOI 10.1186/s40337-022-00668-w
View details for Web of Science ID 000865172900001
View details for PubMedID 36209127
View details for PubMedCentralID PMC9547577
Parental Expressed Emotion, Parenting Stress, and Behavioral Problems of Young Children with 22q11.2 Deletion Syndrome and Idiopathic Autism Spectrum Disorder
CHILD PSYCHIATRY & HUMAN DEVELOPMENT
This study examined the associations of parents' expressed emotion (EE) and parenting stress, with behavioral problems of children with 22q11.2 deletion syndrome, idiopathic autism (iASD) and typically developing (TD) children. Parents of children aged 3-8 years completed the five-minute-speech-sample (FMSS), parental stress index and children behavioral checklist. Parents' FMSS-EE-criticism was higher among parents of children with 22q11DS and iASD compared to parents of TD children. FMSS-EE scores predicted children's behavioral problems, above and beyond parenting stress. The associations between FMSS-EE, parenting stress and children's behavioral problems were consistent across 22q11DS, iASD and TD children. These findings highlight the need for targeting parents' EE and parenting stress as integral elements in the screening and prevention of behavioral problems of young children with 22q11DS and iASD.
View details for DOI 10.1007/s10578-021-01310-7
View details for Web of Science ID 000747094200001
View details for PubMedID 35083589
View details for PubMedCentralID 3197829
Blood brain barrier permeability increases with age in individuals with 22q11.2 deletion syndrome
WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY
2022; 23 (6): 475-482
22q11.2 deletion syndrome (22q11.2DS) is characterised by high rates of psychotic disorders and immune abnormalities. Blood-brain barrier (BBB) permeability is known to be a risk factor for schizophrenia and immune aberrations.To evaluate the relationship between psychosis and BBB permeability in this population.We examined two biomarkers for BBB permeability, s100β and neuron-specific enolase (NSE), in 22q11.2DS individuals with/without psychosis. The first cohort of this Israeli-Belgium study was comprised of 20 22q11.2DS adults (30.58 ± 9.42 years) afflicted with a psychotic disorder, another group of 69 non-psychotic 22q11.2DS adults (23.42 ± 8.36 years), and 58 healthy controls (26.39 ± 7.77 years). A second cohort was comprised of 18 non-psychotic 22q11.2DS Israeli children (5.83 ± 1.55 years) and 14 healthy controls (5.34 ± 1.43 years). NSE and s100β serum levels were detected in all participants.Both factors were elevated in adults with 22q11.2DS compared to healthy controls, specifically in the non-psychotic sub-group. In contrast, there were no significant differences in their levels between the two groups of the paediatric cohort.Increased BBB permeability seems to be a trait of 22q11.2DS that evolves sometime in early adulthood. Our findings are in line with previous reports on non-syndromic schizophrenia, and suggest potential novel neural pathways to psychosis in 22q11.2DS.
View details for DOI 10.1080/15622975.2021.2013090
View details for Web of Science ID 000730524300001
View details for PubMedID 34854358
Feeding, Eating, and Emotional Disturbances in Children with Avoidant/Restrictive Food Intake Disorder (ARFID)
2020; 12 (11)
Avoidant/restrictive food intake disorder (ARFID) is a relatively new diagnostic category. We sought to determine whether the Stanford Feeding Questionnaire (SFQ), an instrument for assessing picky eating, can differentiate children with ARFID from control children, and whether children with ARFID would show more nonfeeding/eating emotional problems than controls. Fifty children with ARFID were compared to 98 controls. Parents completed the SFQ, Screen for Child Anxiety Related Emotional Disorders (SCARED), Strength and Difficulties Questionnaire (SDQ), and Sensory Responsiveness Questionnaire (SRQ). On the SFQ, 12 items represented child ARFID behaviors (SFQ-ARFID Scale), and another 15 items represented parental feeding problems (SFQ-PFP Scale). We found that the SFQ-ARFID and SFQ-PFP Scale scores were significantly higher in children with ARFID vs. controls. Children with ARFID demonstrated higher SDQ-Total-Difficulties, higher SDQ-Internalizing-Difficulties and lower SRQ-Hedonic scores compared with controls. Of all parameters, the SFQ-ARFID Scale best differentiated children with ARFID from control children (area under receiver operating characteristics curve = 0.939, 95% CI, 0.895-0.983, p < 0.001). These findings suggest that parental reports show more eating problems and emotional disturbances in children with ARFID vs. controls, and more parental feeding problems. Further research is required to determine whether the SFQ-ARFID Scale may serve as an effective screening tool for the identification of ARFID.
View details for DOI 10.3390/nu12113385
View details for Web of Science ID 000593772700001
View details for PubMedID 33158087
View details for PubMedCentralID PMC7694203
Education and employment trajectories from childhood to adulthood in individuals with 22q11.2 deletion syndrome
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
2019; 28 (1): 31-42
22q11.2 deletion syndrome (22q11.2DS) is the most common known microdeletion in humans occurring in 1 out of 2000-4000 live births, with increasing numbers of individuals with the microdeletion living into adulthood. The aim of the study was to explore the education and employment trajectories of individuals with 22q11.2DS from childhood to adulthood in a large cohort composed of two significant samples. 260 individuals with 22q11.2DS, 134 male and 126 female, aged 5-59 years (mean age 21.3 ± 10.8 years) were evaluated at two sites, Geneva (GVA) and Tel Aviv (TA). Psychiatric comorbidities, IQ score, and adaptive functioning were assessed using gold-standard diagnostic tools. Demographic factors, such as data about education, employment, marital status, and living status, were collected. Children entering elementary school (5-12 years) were significantly more likely to attend a mainstream school, while adolescents were significantly more likely to attend special education schools (p < 0.005). Cognitive abilities, and not adaptive functioning, predicted school placement. Among adults with 22q11.2DS (n = 138), 57 (41.3%) were unemployed, 46 (33.3%) were employed in open market employment, and 35 (25.4%) worked in assisted employment. In adulthood, adaptive functioning more than cognitive abilities predicted employment. Surprisingly, psychotic spectrum disorders were not found to be associated with employment. Individuals with 22q11.2DS are characterized by heterogeneity in educational and employment profiles. We found that cognitive abilities and adaptive functioning, and not the presence of psychiatric disorders, are key factors in school placement and employment. These factors should, therefore, be taken into account when planning optimal development of individuals with 22q11.2DS.
View details for DOI 10.1007/s00787-018-1184-2
View details for Web of Science ID 000456945300004
View details for PubMedID 29934817
Psychiatric disorders and autism in young children with 22q11.2 deletion syndrome compared to children with idiopathic autism.
European psychiatry : the journal of the Association of European Psychiatrists
2019; 55: 116-121
The 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition characterized by high rates of psychiatric disorders. To our knowledge, this is the first study to assess psychiatric disorders in young children with 22q11DS using a structured psychiatric diagnostic interview, and one of few studies to use the complete gold standard diagnostic evaluation to examine the prevalence of autism spectrum disorder (ASD) in young children with 22q11DS and compare it to a matched control group with iASD.We identified the psychiatric disorders and autistic phenotype of young children with 22q11DS (age 3-8 years) and compared them with those of age and sex-matched children with idiopathic autism (iASD). We used the gold standard psychiatric and ASD assessments including the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule (ADOS) and a clinical examination by a child psychiatrist.Eighty-four percent of the children with 22q11DS had at least one psychiatric disorder, including anxiety disorders and ADHD, and 16% met strict criteria for ASD. Children with 22q11DS and ASD symptoms had less severe overall ASD symptoms than those with iASD. Children with 22q11DS, regardless of ASD diagnosis, were characterized by repetitive restricted behaviors.Our results highlight the need to screen for psychiatric disorders in 22q11DS and treat them already in preschool years.
View details for DOI 10.1016/j.eurpsy.2018.10.007
View details for PubMedID 30453155
View details for PubMedCentralID PMC6309675