FAM160B1 deficit associated with microcephaly,severe intellectual disability,ataxia, behavioral abnormalities and speech problems

Intellectual disability (ID) varies in severity and is often associated with a variety of other clinical features. In consanguineous populations ID is usually inherited in an autosomal recessive fashion. Many genes are known for the condition, but many more are yet to be identified. By linkage analysis and exome sequencing we identified homozygous early truncating variant c.115G > T (p.Glu39*) in FAM160B1 in a 38-year-old woman with severe ID, microcephaly, behavioral abnormalities, speech problems, mild ataxia and mild facial dysmorphism. Recently homozygous missense c.248 T > C (p.Leu83Pro) was reported to underlie the ID syndrome in a 7-year-old boy and his two younger siblings. Some findings for those siblings overlap with those for our patient, but our patient does not have cutis laxa. Our findings confirm FAM160B1, with unknown function, as a syndromic ID gene and indicate that FAM160B1 is not essential for survival but is vital for proper functioning of the nervous system, delineate the FAM160B1-related ID, and describe the disease in a much older age.     

Efficacy of Maitland joint mobilization technique on pain intensity,mouth opening,functional limitation,kinesiophobia, sleep quality and quality of life in temporomandibular joint dysfunction following bilateral cervicofacial burns

BackgroundBilateral cervicofacial burn contracture initially affects facial expressions and later affects tempero mandibular joint (TMJ) function of the patient. It further tightens the ligaments and capsules around the TMJ and leads to tempero mandibular dysfunction. The consequences of temporomandibular joint dysfunction will be pain, limitation of mouth opening, functional disability and poor quality of life (Qol). However, studies examining the efficacy of Maitland joint mobilization technique in this population are lacking.ObjectivesTo find the short term effects of Maitland joint mobilization technique on pain, mouth opening, functional limitation, kinesiophobia, sleep quality and Quality of life in tempero mandibular joint dysfunction following bilateral cervicofacial burns.MethodsThirty subjects with temporomandibular joint dysfunction following cervicofacial burn (N = 30) were allocated to Maitland joint mobilization group (n = 15) and home based training group (n = 15) randomly to receive Maitland joint mobilization technique and home based training for 4 weeks. All the participants received ultrasound therapy as common treatment. Primary (Numeric Pain Rating Scale – NPRS, maximal mouth opening – MMO & Tempero mandibular disability index – TDI) and secondary (Tampa Scale of Kinesiophobia – TSK-17, Sleep quality questionnaire – SSQ & Global Rating of Change – GRC) outcome measures were measured at baseline, after four weeks and three months follow up. Repeated measures of ANOVA and independent t test were performed for analyzing the dependent variables in both groups.ResultsBaseline demographic characters and study variables show homogenous distribution between the groups (p > 0.05). Four weeks following different training protocols Maitland joint mobilization group shows more significant changes in pain intensity, mouth opening, functional limitation, kinesiophobia, sleep quality and Qol than home based training group (p ≤ 0.05). Also Maitland joint mobilization group show significant improvement in study variables than home based training group (p ≤ 0.05) at three months follow up.ConclusionBoth groups improved over time, however, differences between the groups were noticed small. However, physiotherapy management which includes Maitland joint mobilization technique and therapeutic exercise program has an effective strategy in the treatment of tempero mandibular joint dysfunction following cervicofacial burns.     

Organisational environment and challenging behaviour in services for people with intellectual disabilities: A review of the literature

Background

This literature review explores the relationship between the organisational environment of residential disability services and challenging behaviour in people with intellectual disabilities (ID) using Bronfenbrenner's ecological theory as a theoretical framework.

Palliative care for disabled children and young people

Palliative care for disabled children and young people embraces holistic, high quality, evidence-based care, recognition and timely management of symptoms, recognition and discussion with the multidisciplinary team and with families about the possibility of dying and care and support through life, death and bereavement.Systems are being piloted across the UK to collect data about who and where children and young people with palliative care needs are and to ensure robust funding mechanisms are established for provision of care in an equitable way.Decision-making within a legal and ethical framework is paramount in this area of clinical practice, along with clinical networking within care pathways to ensure care delivered is of the highest standard.     

Profiles of orofacial dysfunction in different diagnostic groups using the Nordic Orofacial Test (NOT-S)—A review

Objective. The Nordic Orofacial Test-Screening (NOT-S) was developed as a comprehensive method to assess orofacial function. Results from the screening protocol have been presented in 11 international publications to date. This study reviewed these publications in order to compile NOT-S screening data and create profiles of orofacial dysfunction that characterize various age groups and disorders. Materials and methods. NOT-S results of nine reports meeting the inclusion criteria were reviewed. Seven of these studies not only provided data on the mean and range of total NOT-S scores, but also on the most common domains of orofacial dysfunction (highest rate of individuals with dysfunction scores), allowing the construction of orofacial dysfunction profiles based on the prevalence of dysfunction in each domain of NOT-S. Results. The compiled data comprised 669 individuals, which included healthy control subjects (n = 333) and various patient groups (n = 336). All studies reported differences between individuals with diagnosed disorders and healthy control subjects. The NOT-S data could measure treatment effects and provided dysfunction profiles characterizing the patterns of orofacial dysfunction in various diagnoses. Conclusions. This review corroborates previous results that the NOT-S differentiates well between patients and healthy controls and can also show changes in individuals after treatment. NOT-S could be used as a standard instrument to assess orofacial dysfunction, evaluate the outcomes of oral habilitation and rehabilitation and improve comparability in clinical practice and research.     

Chronic pain in adults with an intellectual disability: prevalence, impact, and health service use based on caregiver report

This study examined chronic pain in adults with an intellectual disability (ID), in terms of its prevalence, impact on physical and psychological functioning, and treatments used. Questionnaires were distributed to 2378 primary caregivers (caregivers) of community-dwelling adults with an ID. The questionnaires were used to gather data on demographics, general health, nature of pain, impact of pain, treatment, and health-related decision making. Responses were received from 753 caregivers (31.6% response rate). Caregivers reported that 15.4% of this sample was experiencing chronic pain, for an average of 6.3 years. Significantly more females than males were reported to experience chronic pain, although age, communication ability, and level of ID were not found to be associated with the presence of pain. However, the presence of pain was associated with cerebral palsy, physical disability, and reports of challenging behaviour. A significant proportion of individuals with chronic pain also experienced limitations in several aspects of daily living, and more than 78% of caregivers reported that the service user had become upset or distressed by pain. More than 80% of service users were receiving some form of treatment for their pain, with most seeing a family physician and using analgesics as the primary form of pain treatment. Results indicate that chronic pain is a significant problem for persons with an ID, with a proportion of service users living with daily pain for many years and experiencing limitations in daily functioning, emotional well-being, and quality of life.     

Information in dementia care: sense making and a public health direction for the UK?

Providing information is a core focus of policy and practice in dementia care. Information is a vehicle through which people can be enabled or disabled, so it is essential that we ensure that information is available in a way that is accessible and relevant for people with dementia and that it enables personal aspiration and collective identity to be advanced in a way that is to the benefit of those living with dementia. People with dementia need information to support autonomy in making decisions and in acting on those decisions. Information must be provided in a way that is appropriate to the individual and to achieve that requires knowledge of the needs of that individual. However, maintaining autonomy includes, but involves much more than, the provision of information - others need to listen and hear their views and be prepared to act on them. As professionals, we must be aware that the (dementia) information we provide may disrupt the biographical narrative that people with dementia value. Thus, a person-centred approach encourages the sharing of knowledge and information. The (mis)use of information also impacts on the way that society disables, discriminates and applies barriers against people with disability.     

The Relationship Between Respite Care and Child Abuse Potential in Parents of Children with Developmental Disabilities: A Preliminary Report

This study longitudinally examined the impact of respite care services on child abuse potential and family relations in a sample of parents (N = 14) whose children were admitted for respite care to a center for developmental disability. A sample of parents (N = 18) whose children were admitted for short-term hospitalization (STH) was used as a contrast group. In addition, we examined the interrelationships between child abuse potential, family relations, and parenting stress at 3 time points. Parents completed measures of child abuse potential, family relations, and parenting stress at time of admission, discharge, and at a 2-month follow-up. Results indicated that neither respite care nor STH resulted in significant effects on child abuse potential or family relations although trends were found in the expected direction. Strong interrelationships were found between child abuse potential, family relations, and parenting stress at each of the 3 time points. These preliminary results suggest that respite care may be insufficient to directly impact child abuse potential; however, interventions that target variables related to abuse (e.g., quality of family relations, parenting stress) might be beneficial.