We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the literature from 18 published clinical reports. Our patient had specific phobias, SM, extreme anxiety, obesity, cutis marmorata, and a round appearing face with a short neck and over folded ears. We reviewed the published clinical, cognitive, behavioral, and cytogenetic findings grouped by speech and language delay, growth and development, craniofacial, clinical, and behavior and cognitive features due to the 7q11.23 microduplication. This microduplication syndrome is characterized by speech delay (91%), social anxiety (42%), attention deficit hyperactivity disorder (ADHD, 37%), autism spectrum disorder (29%), and separation anxiety (13%). Other findings include abnormal brain imaging (80%), congenital heart and vascular defects (54%), and mild intellectual disability (38%). We then compared the phenotype with Williams?Beuren syndrome (WBS) which is due to a deletion of the same chromosome region. Both syndromes have abnormal brain imaging, hypotonia, delayed motor development, joint laxity, mild intellectual disability, ADHD, autism, and poor visuospatial skills but opposite or dissimilar findings regarding speech and behavioral patterns, cardiovascular problems, and social interaction. Those with WBS are prone to have hyperverbal speech, lack of stranger anxiety, and supravalvular aortic stenosis while those with the 7q11.23 microduplication have speech delay, SM, social anxiety, and are prone to aortic dilatation.
Introduction ADHD (Attention Deficit Hyperactivity Disorder) is characterised by age-inappropriate symptoms of hyperactivity, impulsivity and inattention. Iron deficiency anaemia (IDA) is the most common nutritional problem in the UK, affecting 8-13% of children1. Serum ferritin, serum iron and transferrin saturation decrease in IDA. It has been postulated that ADHD is modulated by dopaminergic mesocortical pathways. Iron is a coenzyme in dopaminergic synthesis. Previous research has suggested that low ferritin and IDA may have a role in ADHD2. Objective To determine whether there is an increased prevalence of IDA in children with ADHD Method Review of casenotes of 100 ADHD children. 40 cases were suspected to have IDA from history and clinical findings. 38 were included in the review since lab results of 2 children were not available. We reviewed all electronic record letters and laboratory results. Results 2 children were female and 36 were male, with an age range of 4-14 years (median 7 years). 92% had ADHD and 8% ADD (attention deficit disorder). 17 had poor appetite, 2 had poor weight gain, 1 had food allergy, 1 had nut allergy and 8 of them had significantly reduced appetite with medication. Serum ferritin was low in 50%. The lower limit of the reference range for ferritin in our hospital's lab is 30 ug/ml for males and 13 ug/ml for females; other studies have used a lower limit of 50 ug/ml. Had we used the latter value, more children would have been classified as having a low ferritin. Serum iron and transferrin saturation were low in 32% and 45% respectively. Full blood count was abnormal in 42%, with MCV low in 40% of these children. Conclusion There may be an association between IDA and ADHD. It may be useful to screen children with ADHD for iron deficiency anaemia. However this was a small retrospective review. A larger, well-designed prospective study is required.
Introduction Approximately 85 children per year die because of maltreatment in the UK. Over 600,000 children are referred to social care. In 2012, 42,700 children were on the Child Protection Plan (CPP). Aim 1. To identify the pattern of various forms of child abuse. 2. To assess our compliance with national guidelines to improve our service. Methods Retrospective review of 8 audits completed over 8 years. Data was collected from 2005 – 2012 from 555 cases referred to our service. Prospective audit proformas, case files, Electronic Patient records, NAI medical reports and peer review minutes were used. Results On average, 70% of assessments were completed at rapid access clinics. Cases showed bruising (45%), bite marks (4%), burns (5%) and abrasions/cuts (7%). Referrals were made mostly by Social care (74%), GPs (7%) and A&E (5%), and were due to physical abuse (90% v 60%) and neglect (7% v 25%) in 2005 v 2012 respectively, as awareness of various forms of abuse, increased. Consent for assessment improved over time (28% in 2005 v 97% in 2012). In 2005 assessments were carried out in various locations; by 2012 all cases were assessed in the hospital setting. Assessments were made by Consultants in 22% v 39% cases, Paediatric trainees in 5% v 48% and CMOs in 72% v 13% of cases in 2005 v 2012 respectively. The uptake of investigations (19% v 36%) and photographs (22% v 97%) improved between 2005 to 2012 respectively. The outcomes of assessment showed 30% were conclusive NAI whilst 11% were neglect. The number of children on the CPP increased from 186 to 323 over time, and our number of LAC increased to over 500. In 2012, a new flagging system was introduced to alert physicians to children on the CPP. 85% of children known to the CPP are now flagged as such. Conclusions Significant changes and improvements in our safeguarding system were seen over this 8 year period as a result of these audits. National recommendation compliance also improved as a result of various local and joint policies, peer review supervision forums and various commissioned staff training courses.
Introduction ADHD is complex condition associated with many co morbidities. Limited data are available on the relationship between treatment efficacy and satisfaction in atypical care setting with ADHD patients. Measuring treatment satisfaction in ADHD is valuable part of treatment individualization. Aim To assess parent satisfaction with our ADHD services To assess the treatment outcome of ADHD patients. Methodology A survey of parents with ADHD children. A postal questionnaires asking about our services in line of NICE guideline, with two other set of Q’s, strength and difficulties (SADQ) & Connor Q were sent to 100 patients diagnosed with ADHD Results The response rate was 47%, 87%(41) male and 13% female, with ratio 7:1. 43% were above 10 year of age, 54% were diagnosed before age of 10. 40% had co morbidities. 48.9% of children had special educational statement and 65.9% were recipient of disability living allowance. 91%(43) were satisfied with the information we provided them about ADHD. 72% found information helpful, 65% took the behavioural therapy. 41% attended behavioural therapy found it helpful. only 32% attended psycho educational ADHD parenting course. 25% were seen by child and adolescents psychiatrist due to co morbidities. 93% were given information about medications, 90% (42)were on medication, and 74.5%(35) were using first line of medication. 50% of children experienced some form of side effects. Outcome measurment of the treatment in parents view, 75% seen improvement in child’s behaviour. 68% had behavioural improvement at school, 59% were progressing well at school post treatment, and 53% seen improvement at home. Using validated Q, SADQ scoring showed some improvement, in 24% post treatment versus 21% pre treatment, in 55% we had no previous data available to compare. Conclusion NICE & European guidelines emphasises the use of person centred and individual approach. Measuring treatment satisfaction in ADHD is a valuable part of treatment individualization. Most parents were satisfied with our management, however the behavioural therapy were only offered to 72% as the behavioural therapy & psychosocial training options only fully developed in last 2 years, since this survey every newly diagnosed patient will be offered these options. Using rating scales and Q was not helpful for measuring the out come, for various reasons. However we believe this could be done in a better way with bigger samples including school / young peoples view.
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