Coping with information style and family burden:Possible roles of self-stigma and hope among parents of children in a psychiatric inpatient unit

Objective: Parents of children who are hospitalized in inpatient psychiatric units must cope with significant challenges. One of these challenges relates to the way in which they cope with illness-related information. The current study examined the relationship between two such coping styles - monitoring and blunting - and family burden among parents of children in a psychiatric inpatient unit. Moreover, the possible moderating roles.played by hope and self-stigma in these associations were also examined. Methods: Questionnaires regarding coping with information style, self-stigma, hope and family burden were administered to 70 parents. Results: A main positive effect of hope and a main negative effect of self-stigma were uncovered. An interaction between self-stigma and monitoring was also revealed, suggesting that for parents with high self-stigma, compared to those with low self-stigma, more monitoring was related to more burden. Conclusions: Tailoring family interventions according to coping style and self-stigma is highly recommended as a mean to reduce the family burden of parents whose child is hospitalized in a psychiatric inpatient unit. (C) 2016 Elsevier Masson SAS. All rights reserved

Auditory stimulation improves motor function and caretaker burden in children with cerebral palsy- A randomized double blind study.

AIM: To investigate the impact of auditory stimulation on motor function in children with cerebral palsy (CP) and disabling hypertonia. METHOD: 9 matched pairs (age: 7y5m, SD 4y1m; 13 boys; gross-motor-functional-classification-scale: median 4; manual-ability-classification-system: median 4) were randomized to receive either auditory stimulation embedded in music (study, n = 9) or music alone (sham, control, n = 9) for at least 10 minutes 4 times a week for 4 weeks. Goal-Attainment-Scale, Care-and-Comfort-Hypertonicity-Questionnaire, Gross-Motor-Function-Measure and Quality-of-Upper-Extremity-Skills-Test (QUEST) were assessed before and 5 months following intervention. RESULT: Children receiving auditory stimulation attained more goals than children who listened to music alone (p = 0.002). Parents reported improved care and comfort in children in the study group compared to a slight deterioration in controls (p = 0.002). Upper extremity skills improved in the study group compared to controls (p = 0.006). Similar gross motor function changes were documented in both groups (p = 0.41). One participant reported increased seizure frequency; no other participants with epilepsy reported increased seizure frequency (n = 6/18) and no other adverse events were reported. INTERPRETATION: Auditory stimulation alleviated hypertonia and improved fine and gross motor functions

Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants

BACKGROUND AND OBJECTIVES: Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease. METHOD: Following detailed clinical phenotyping, 1 family underwent research whole-genome sequencing (WGS), 1 research whole-exome sequencing, and 2 diagnostic WGS. Variants of interest were assessed for pathogenicity using in silico prediction tools, homology modeling, and, where relevant, sequencing of complementary DNA (cDNA) for splicing effect. RESULTS: In 2 unrelated families of Pakistani origin (1 consanguineous and 1 not), the same homozygous missense variant in SLC30A9 (c.1253G>T, p.Gly418Val) was identified. Family 1 included 2 affected brothers, and family 2 one affected boy. In family 3, also consanguineous, there were 4 affected siblings homozygous for the variant c.1049delCAG, pAla350del. The fourth family was nonconsanguineous: the 1 affected individual was compound heterozygous for c.1083dup, p.Val362Cysfs*5, and c.1413A>G, p.Ser471=. Despite phenotypic variability between the 4 families, all affected patients manifested with a progressive hyperkinetic movement disorder, associated with oculomotor apraxia and ptosis. None had evidence of severe renal impairment. For the novel missense variant, the conformation of the loop domain and packing of transmembrane helices are likely to be disrupted based on structure modeling. Its presence in 2 unrelated Pakistani families suggests a possible founder variant. For the synonymous variant p.Ser471=, an effect on splicing was confirmed through cDNA analysis. DISCUSSION: Pathogenic variants in SLC30A9 cause a progressive autosomal recessive neurologic syndrome associated with a complex hyperkinetic movement disorder. Our report highlights the expanding disease phenotype, which can present with a wider spectrum of severity than has previously been recognized

At-risk elementary school children with one year of classroom music instruction are better at keeping a beat

Temporal processing underlies both music and language skills. There is increasing evidence that rhythm abilities track with reading performance and that language disorders such as dyslexia are associated with poor rhythm abilities. However, little is known about how basic time-keeping skills can be shaped by musical training, particularly during critical literacy development years. This study was carried out in collaboration with Harmony Project, a non-profit organization providing free music education to children in the gang reduction zones of Los Angeles. Our findings reveal that elementary school children with just one year of classroom music instruction perform more accurately in a basic finger-tapping task than their untrained peers, providing important evidence that fundamental time-keeping skills may be strengthened by short-term music training. This sets the stage for further examination of how music programs may be used to support the development of basic skills underlying learning and literacy, particularly in at-risk populations which may benefit the most

Training compliance control yields improvements in drawing as a function of beery scores

Many children have difficulty producing movements well enough to improve in sensori-motor learning. Previously, we developed a training method that supports active movement generation to allow improvement at a 3D tracing task requiring good compliance control. Here, we tested 7–8 year old children from several 2nd grade classrooms to determine whether 3D tracing performance could be predicted using the Beery VMI. We also examined whether 3D tracing training lead to improvements in drawing. Baseline testing included Beery, a drawing task on a tablet computer, and 3D tracing. We found that baseline performance in 3D tracing and drawing co-varied with the visual perception (VP) component of the Beery. Differences in 3D tracing between children scoring low versus high on the Beery VP replicated differences previously found between children with and without motor impairments, as did post-training performance that eliminated these differences. Drawing improved as a result of training in the 3D tracing task. The training method improved drawing and reduced differences predicted by Beery scores

The Negative Impacts of COVID-19 Containment Measures on South African Families - Overview and Recommendations

The World Health Organization (WHO) reported various pneumonia cases (‘Coronavirus Disease 2019’ [COVID-19]) on 31 December 2019 in Wuhan City, China, which has spread to many countries, including South Africa. In response to this, the President of South Africa declared a state of national disaster on 15th March 2020, followed by introducing various COVID-19 containment measures to minimize the spread of the virus. This paper examines the negative impacts that COVID-19 containment measures may have had on the family as a unit of society and furthermore provides recommendations to mitigate the impacts of these measures. It can be concluded that COVID-19 containment measures, specifically the lockdown restrictions, would yield both short-term and long-term impacts on proper family functioning. Several families in South Africa have been impacted financially due to the closure of business which led to the temporary/ permanent unemployment of some breadwinners in the families. This also has had a cascading impact on the food security of families and their ability to afford other basic necessities. Distress as a result of financial challenges or failure to provide for the family alongside spending much time locked down together as a family has also led to violence in the family. This was further exacerbated by the fact that the victims were stuck with the abusers and some could not report or find help due to the restricted movements. Furthermore, since most institutions predominantly moved learning online, results indicated that the lockdown restrictions affected the ability of some individuals especially those from poor families to access formal education during the period due to the lack of digital devices and internet facilities. In order to mitigate the impacts of the COVID-19 containment measures on the family, there is a need for collaborative efforts at intrapersonal, interpersonal, institutional, community and policy levels using the ecological framework

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy

High throughput sequencing is discovering many likely causative genetic variants in individuals with cerebral palsy. Some investigators have suggested that this changes the clinical diagnosis of cerebral palsy and that these individuals should be removed from this diagnostic category. Cerebral palsy is a neurodevelopmental disorder diagnosed on clinical signs, not etiology. All nonprogressive permanent disorders of movement and posture attributed to disturbances that occurred in the developing fetal and infant brain can be described as "cerebral palsy." This definition of cerebral palsy should not be changed, whatever the cause. Reasons include stability, utility and accuracy of cerebral palsy registers, direct access to services, financial and social support specifically offered to families with cerebral palsy, and community understanding of the clinical diagnosis. Other neurodevelopmental disorders, for example, epilepsy, have not changed the diagnosis when genomic causes are found. The clinical diagnosis of cerebral palsy should remain, should prompt appropriate genetic studies and can subsequently be subclassified by etiology

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essential for normal development, little is known about the specific functions of the different MLL lysine methyltransferases. Here we report heterozygous variants in the gene KMT2B (also known as MLL4) in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance and characteristic brain magnetic resonance imaging findings. Over time, the majority of affected individuals developed prominent cervical, cranial and laryngeal dystonia. Marked clinical benefit, including the restoration of independent ambulation in some cases, was observed following deep brain stimulation (DBS). These findings highlight a clinically recognizable and potentially treatable form of genetic dystonia, demonstrating the crucial role of KMT2B in the physiological control of voluntary movement.Funding for the project was provided by the Wellcome Trust for UK10K (WT091310) and DDD Study. The DDD study presents independent research commissioned by the Health Innovation Challenge Fund [grant number HICF-1009-003] - see www.ddduk.org/access.html for full acknowledgement. This work was supported in part by the Intramural Research Program of the National Human Genome Research Institute and the Common Fund, NIH Office of the Director. This work was supported in part by the German Ministry of Research and Education (grant nos. 01GS08160 and 01GS08167; German Mental Retardation Network) as part of the National Genome Research Network to A.R. and D.W. and by the Deutsche Forschungsgemeinschaft (AB393/2-2) to A.R. Brain expression data was provided by the UK Human Brain Expression Consortium (UKBEC), which comprises John A. Hardy, Mina Ryten, Michael Weale, Daniah Trabzuni, Adaikalavan Ramasamy, Colin Smith and Robert Walker, affiliated with UCL Institute of Neurology (J.H., M.R., D.T.), King’s College London (M.R., M.W., A.R.) and the University of Edinburgh (C.S., R.W.)