Clinical analysis of Gabriele-de Vries caused by YY1 mutations and literature review.

BACKGROUND: Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease characterized by global development delay/intellectual disability, delayed language development, feeding difficulties, and distinctive facial dysmorphism. It is caused by pathogenic variants in YY1. METHODS: The current report describes a female patient with motor delay and a facial dysmorphism phenotype. We identified pathogenic mutations in the patient by whole-exome sequencing and confirmed them by Sanger sequencing. RESULTS: A novel heterozygous frameshift mutation NM_003403.5:c.458_476del (p. V153fs*97) in the YY1 gene was detected in the proband. Finally, we provide a case-based review of the clinical features associated with Gabriele-de Vries syndrome. A total of 28 patients with genetic abnormalities and clinical phenotypes have been reported in the literature thus far. CONCLUSIONS: The mutation site is reported for the first time, and its discovery would expand the mutation spectrum of the YY1 gene. The main clinical manifestations of Gabriele-de Vries syndrome are developmental delay/intellectual disability, craniofacial dysplasia, intrauterine growth delay, low birth weight, feeding difficulties, and rare congenital malformations. Genetic tests are crucial techniques for its diagnosis because of its nonspecific clinical manifestations.

Prenatal Diagnosis and Molecular Cytogenetic Analyses of a de novo Deletion on Chromosome 4p16.3p15.33.

Wolf-Hirschhorn syndrome (WHS) (OMIM 194190) is a contiguous gene syndrome with an estimated prevalence of around 1 in 50,000 births. The syndrome is caused by the deletion of a critical region (Wolf-Hirschhorn Syndrome Critical region-WHSCR) on chromosome 4p16.3. Its core features are typical facial gestalt, growth retardation, intellectual disability, developmental delay, and seizures. Prenatal diagnosis of WHS helps clinicians and parents make informed decisions about pregnancy management. In this research, a 31-year-old woman (gravida 1, para 0) underwent amniocentesis at 18 weeks gestation because of the short nasal bone of the fetus on prenatal ultrasound. Chromosomal microarray analysis (CMA) on uncultured amniocytes revealed a de novo 11.36-Mb deletion on chromosome 4p16.3p15.33, spanning from position 40 000 to 11 400 000 (hg19). After genetic counselling and being informed of the unfavorable prognosis, the parents decided to terminate the pregnancy. We provide a detailed description of a de novo 11.36-Mb deletion on chromosome 4p16.3p15.33 (Wolf-Hirschhorn syndrome). CMA has more advantages than karyotype analysis in detecting chromosomal microdeletions/microduplications. A combination of karyotype analysis, CMA, prenatal ultrasound, and genetic counseling is helpful for the prenatal diagnosis of chromosomal deletions/duplications.

Access to general practice for people with intellectual disability in Australia: a systematic scoping review.

BACKGROUND: People with intellectual disability experience inadequate access to general practice and poorer health outcomes than the general population. While some access barriers have been identified for this population, these studies have often used narrow definitions of access, which may not encompass the multiple dimensions that influence access to general practice. To address this gap, we conducted a scoping review to identify factors impacting access to general practice for people with intellectual disability in Australia, using a holistic framework of access conceptualised by Levesque and colleagues. METHODS: This scoping review followed Joanna Briggs Institute methodology and was guided by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews. Medline (Ovid), Scopus, CINAHL, Informit and PsycINFO databases were searched. Screening, full-text review and data extraction were completed by two independent reviewers, with consensus reached at each stage of the study. Data were extracted, coded and synthesised through deductive qualitative analysis - using the five corresponding conceptual dimensions within Levesque and colleagues' theoretical framework of access, which incorporate both supply-side features of health systems and services, and demand-side characteristics of consumers and populations. RESULTS: The search identified 1364 publications. After duplicate removal, title and abstract screening and full-text review, 44 publications were included. Supply-side factors were more commonly reported than demand-side factors, with the following issues frequently identified as impacting access to general practice: limited general practitioner education about, and/or experience of, people with intellectual disability; communication difficulties; and inadequate continuity of care. Less frequently included were factors such as the health literacy levels, promotion of general practice services and availability of complete medical records. CONCLUSIONS: This is the first scoping review to assess access barriers for people with intellectual disability using a comprehensive conceptualisation of access. The findings highlight the need for increased efforts to address demand-side dimensions of access to general practice and offer a basis for a balanced portfolio of strategies that can support recent policy initiatives to enhance access to care for people with intellectual disability.

Differential auditory brain response abnormalities in two intellectual disability conditions: SYNGAP1 mutations and Down syndrome.

OBJECTIVE: Altered sensory processing is common in intellectual disability (ID). Here, we study electroencephalographic responses to auditory stimulation in human subjects presenting a rare condition (mutations in SYNGAP1) which causes ID, epilepsy and autism. METHODS: Auditory evoked potentials, time-frequency and inter-trial coherence analyses were used to compare subjects with SYNGAP1 mutations with Down syndrome (DS) and neurotypical (NT) participants (N = 61 ranging from three to 19 years of age). RESULTS: Altered synchronization in the brain responses to sound were found in both ID groups. The SYNGAP1 mutations group showed less phase-locking in early time windows and lower frequency bands compared to NT, and in later time windows compared to NT and DS. Time-frequency analysis showed more power in beta-gamma in the SYNGAP1 group compared to NT participants. CONCLUSIONS: This study indicated reduced synchronization as well as more high frequencies power in SYNGAP1 mutations, while maintained synchronization was found in the DS group. These results might reflect dysfunctional sensory information processing caused by excitation/inhibition imbalance, or an imperfect compensatory mechanism in SYNGAP1 mutations individuals. SIGNIFICANCE: Our study is the first to reveal brain response abnormalities in auditory sensory processing in SYNGAP1 mutations individuals, that are distinct from DS, another ID condition.

Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.

BACKGROUND: The Treatable ID App was created in 2012 as digital tool to improve early recognition and intervention for treatable inherited metabolic disorders (IMDs) presenting with global developmental delay and intellectual disability (collectively 'treatable IDs'). Our aim is to update the 2012 review on treatable IDs and App to capture the advances made in the identification of new IMDs along with increased pathophysiological insights catalyzing therapeutic development and implementation. METHODS: Two independent reviewers queried PubMed, OMIM and Orphanet databases to reassess all previously included disorders and therapies and to identify all reports on Treatable IDs published between 2012 and 2021. These were included if listed in the International Classification of IMDs (ICIMD) and presenting with ID as a major feature, and if published evidence for a therapeutic intervention improving ID primary and/or secondary outcomes is available. Data on clinical symptoms, diagnostic testing, treatment strategies, effects on outcomes, and evidence levels were extracted and evaluated by the reviewers and external experts. The generated knowledge was translated into a diagnostic algorithm and updated version of the App with novel features. RESULTS: Our review identified 116 treatable IDs (139 genes), of which 44 newly identified, belonging to 17 ICIMD categories. The most frequent therapeutic interventions were nutritional, pharmacological and vitamin and trace element supplementation. Evidence level varied from 1 to 3 (trials, cohort studies, case-control studies) for 19% and 4-5 (case-report, expert opinion) for 81% of treatments. Reported effects included improvement of clinical deterioration in 62%, neurological manifestations in 47% and development in 37%. CONCLUSION: The number of treatable IDs identified by our literature review increased by more than one-third in eight years. Although there has been much attention to gene-based and enzyme replacement therapy, the majority of effective treatments are nutritional, which are relatively affordable, widely available and (often) surprisingly effective. We present a diagnostic algorithm (adjustable to local resources and expertise) and the updated App to facilitate a swift and accurate workup, prioritizing treatable IDs. Our digital tool is freely available as Native and Web App (www.treatable-id.org) with several novel features. Our Treatable ID endeavor contributes to the Treatabolome and International Rare Diseases Research Consortium goals, enabling clinicians to deliver rapid evidence-based interventions to our rare disease patients.

A Virtual Resiliency Intervention Promoting Resiliency for Parents of Children with Learning and Attentional Disabilities: A Randomized Pilot Trial.

OBJECTIVES: One in five children have a learning and attentional disability (LAD). Parents of children with LAD are vulnerable to distress, but an evidence-based treatment has not been developed. METHODS: From June 2016 to November 2017, we conducted a mixed methods study to adapt and assess the virtual delivery of a mind-body group resiliency program, the Stress Management and Resiliency Training-Relaxation Response Resiliency Program (SMART-3RP), to meet the needs of parents of children with LAD; this is an 8-session weekly group intervention. In the first phase, we conducted 4 parent focus group interviews, 2 professional focus group interviews, and 5 professional individual interviews, and 1 pilot group to adapt the SMART-3RP to target the needs of parents of children with LAD. In the second phase, we conducted a pilot wait-list controlled study to assess the feasibility, acceptability, and preliminary efficacy of a videoconferencing delivery of the adapted program. Parents were randomized to an immediate intervention group (IG) or wait-list control group (WC). Surveys were administered at baseline (time 1), end of intervention for the IG or 3 months post-baseline for the WC (time 2), and 3 months post treatment for the IG or end of intervention for the WC (time 3). RESULTS: Qualitative findings illustrated high levels of parental stress, with primary stressors including navigating the educational system, interactions with other parents, familial concerns, and financial and professional sacrifices. We adapted the manual to target these stressors and modified session logistics and delivery. Fifty-three parents (mean age = 46.8; 90.6% female) participated nationally in the pilot trial. 62.5% of participants completed ≥ 6/8 sessions; 81.8% reported continued daily/weekly relaxation response exercise practice. T1-T2 comparisons found that IG versus WC participants showed significant improvements in distress [VAS], ∆M = - 1.95; d = .83 and resilience [CES], ∆M = 6.38; d = .83, as well as stress coping [MOCS-A] ∆M = 8.69; d = 1.39; depression and anxiety [PHQ-4], ∆M = - 1.79; d = .71; social support [MOS-SSS], ∆M = 5.47; d = .71; and empathy [IRI], ∆M = 3.17; d = .77; improvements were sustained at the 3 month post intervention follow-up. CONCLUSION: Pilot wait-list randomized trial findings showed promising feasibility, acceptability, and preliminary efficacy for the SMART-3RP intervention adapted for parents of children with LAD. This virtually-delivered resiliency intervention improved parents' distress, resiliency, and stress coping, which were sustained. CLINICAL TRIALS ID: NCT02772432.

The contemporary view of intellectual and developmental disabilities: Implications for psychologists.

BACKGROUND: The field of intellectual and developmental disabilities (IDD) is currently experiencing a significant transformation that encompasses an integrated approach, especially regarding shared aspects such as a focus on the human and legal rights, the eligibility for services and supports, and an emphasis on individualized supports provided within inclusive community-based environments. Accompanying this transformation is the increased need of precision in both the operational definitions of IDD-related constructs, and the terminology used to describe the respective construct. METHOD: the specialized literature was revised, and previous works on the subject by the authors were updated. RESULTS: This article provides psychologists with the current definition of intellectual disability, operational definitions of intellectual disability and developmental disabilities constructs and associated terminology, and the parameters of an integrated approach to disability. CONCLUSIONS: Implications for psychologists who are involved in diagnosis, classification, and planning supports for persons with intellectual or developmental disability are discussed.

Psychiatric and Medical Conditions in Transition-Aged Individuals With ASD.

BACKGROUND AND OBJECTIVES: Children with autism spectrum disorder (ASD) have a variety of medical and psychiatric conditions and an increased use of health care services. There is limited information about the prevalence of psychiatric and medical conditions in adolescents and young adults with ASD. Our objective was to describe the frequency of medical and psychiatric conditions in a large population of diverse, insured transition-aged individuals with ASD. METHODS: Participants included Kaiser Permanente Northern California members who were enrolled from 2013 to 2015 and who were 14 to 25 years old. Individuals with ASD (n = 4123) were compared with peers with attention-deficit/hyperactivity disorder (n = 20 615), diabetes mellitus (n = 2156), and typical controls with neither condition (n = 20 615). RESULTS: Over one-third (34%) of individuals with ASD had a co-occurring psychiatric condition; the most commonly reported medical conditions included infections (42%), obesity (25%), neurologic conditions (18%), allergy and/or immunologic conditions (16%), musculoskeletal conditions (15%), and gastrointestinal (11%) conditions. After controlling for sex, age, race, and duration of Kaiser Permanente Northern California membership, most psychiatric conditions were significantly more common in the ASD group than in each comparison group, and most medical conditions were significantly more common in the ASD group than in the attention-deficit/hyperactivity disorder and typical control groups but were similar to or significantly less common than the diabetes mellitus group. CONCLUSIONS: Although more research is needed to identify factors contributing to this excess burden of disease, there is a pressing need for all clinicians to approach ASD as a chronic health condition requiring regular follow-up and routine screening and treatment of medical and psychiatric issues.

Risk Assessment of Adolescents with Intellectual Disabilities Who Exhibit Sexual Behavior Problems or Sexual Offending Behavior.

Adolescents with intellectual disabilities are known to engage in various sexual behavior problems or sexual offending behaviors. This article provides a review of important aspects of risk assessment within the context of a broader, more comprehensive and holistic assessment of these individuals. Pertinent risk and sexual interest assessment tools are identified along with their strengths and limitations. Issues that are often unattended to are addressed, including consideration of the behavioral implications of the young person's diagnosis and level of cognitive functioning, need for sexual knowledge and sexual interest assessment, and issues related to making a mental health diagnosis. Recommendations for future research are also offered.

Psychoeducational assessment of students with intellectual disability: professional-action framework analysis.

BACKGROUND: The right to educational inclusion for students with intellectual disability (SWID) requires the development of good assessment and intervention practices from holistic perspectives not exclusively focused on the academic limitations that SWID may present. These practices are settled in Spain, via regulations drawn up by each Autonomous Community (AC). The variety of existing regulations demands a critical review of the decisions taken to promote the inclusion of those students. METHOD: current regulations-in-force in each AC that regulate attention to diversity (AD) have been were analyzed by using a checklist that includes the variables that defining each stage of the AD process and the ways of providing supports that favor the development, learning and participation of SWID. RESULTS: attention to diversity measures in each AC emphasize organizational and curricular issues, with no AC following holistic approaches in both assessment and intervention, but rather neglecting self-determination and the promotion of quality of life for SWID. CONCLUSIONS: guidelines for the development of new legal frameworks and professional practices based on the latest evidence-based models of attention to SWID and on the results are discussed.

La atención a personas con discapacidad intelectual: un modelo multidimensional integral basado en la calidad de vida, relaciones con el entorno y apoyos / No disponible

La discapacidad intelectual tiene muy importantes repercusiones personales, familiares, sociales y sanitarias. Sus causas son múltiples y variadas y con frecuencia interactúan diversos factores biológicos, sociales, conductuales y educativos que afectan al funcionamiento de la persona. En las últimas décadas se han desarrollado tres importantes avances científicos y sociológicos que han influido en la práctica profesional en el campo de la discapacidad intelectual: la importancia de centrarse en la calidad de vida de la persona; un concepto ecológico de la discapacidad; el diseño y la aplicación de apoyos y facilitadores para mejorar la discapacidad, el funcionamiento y la calidad de vida de la persona. Este cambio no sólo mejora nuestra comprensión de la discapacidad intelectual, sino que modifica el modo de diagnosticar, clasificar, evaluar y planificar el apoyo a las personas. La discapacidad intelectual ha pasado a considerarse no como una limitación en la inteligencia o capacidades adaptativas de la persona, sino como un estado de la persona que afecta a su salud, a su participación en la comunidad y a los roles que la persona asume en la sociedad. Se presenta una revisión de estos conceptos y de su aplicación práctica basada en la asistencia a las personas con discapacidad intelectual y trastornos psiquiátricos asociados

Intellectual Disability has very important personal, familial, social and health care consequences. The causes are many and diverse and, frequently, various biological, social, behavioural and educational factors affecting the functioning of the person inter-play. Over the last decades, three significant scientific and sociological advances that influenced the professional practice in the field of Intellectual Disability have taken place: An emphasis in focusing on the quality of life of the person, an ecological concept of Intellectual Disability and the design and application of supports and enablers to improve handicaps, functioning and the quality of life. These changes not only have improved our understanding of Intellectual Disability but also have modified the approach in the diagnosis, classification, assessment and application of support to these persons. Intellectual Disability is nowadays considered not just a limitation of the intelligence or adaptive abilities of the person but rather as a condition that affects his health, participation in his community and the roles played by this person in society. A review of these concepts and their practical application to persons with Intellectual Disability and associated psychiatric disturbances is presented

Development and validation of the Learning Disabilities Needs Assessment Tool (LDNAT), a HoNOS-based needs assessment tool for use with people with intellectual disability.

BACKGROUND: In meeting the needs of individuals with intellectual disabilities (ID) who access health services, a brief, holistic assessment of need is useful. This study outlines the development and testing of the Learning Disabilities Needs Assessment Tool (LDNAT), a tool intended for this purpose. METHOD: An existing mental health (MH) tool was extended by a multidisciplinary group of ID practitioners. Additional scales were drafted to capture needs across six ID treatment domains that the group identified. LDNAT ratings were analysed for the following: item redundancy, relevance, construct validity and internal consistency (n = 1692); test-retest reliability (n = 27); and concurrent validity (n = 160). RESULTS: All LDNAT scales were deemed clinically relevant with little redundancy apparent. Principal component analysis indicated three components (developmental needs, challenging behaviour, MH and well-being). Internal consistency was good (Cronbach alpha 0.80). Individual item test-retest reliability was substantial-near perfect for 20 scales and slight-fair for three scales. Overall reliability was near perfect (intra-class correlation = 0.91). There were significant associations with five of six condition-specific measures, i.e. the Waisman Activities of Daily Living Scale (general ability/disability), Threshold Assessment Grid (risk), Behaviour Problems Inventory for Individuals with Intellectual Disabilities-Short Form (challenging behaviour) Social Communication Questionnaire (autism) and a bespoke physical health questionnaire. Additionally, the statistically significant correlations between these tools and the LDNAT components made sense clinically. There were no statistically significant correlations with the Psychiatric Assessment Schedules for Adults with Developmental Disabilities (a measure of MH symptoms in people with ID). CONCLUSIONS: The LDNAT had clinically utility when rating the needs of people with ID prior to condition-specific assessment(s). Analyses of internal and external validity were promising. Further evaluation of its sensitivity to changes in needs is now required.

[Epilepsy and Pregnancy]. / Epilepsie und Schwangerschaft.

BACKGROUND: On average, female patients with epilepsy have 0.9 children, which is below the birth rate of healthy women. One reason is insufficient counselling. OBJECTIVES: To summarize the current data relevant to counselling pregnant women with epilepsy. MATERIALS AND METHODS: Discussion of research and recommendations concerning seizure control during pregnancy, pregnancy and birth complications, congenital malformations, and breastfeeding. RESULTS: Changes in seizure frequency during pregnancy are variable and partly due to changes in the serum concentrations of antiepileptic drugs. Epilepsy patients have a slightly higher risk for some pregnancy and birth complications including spontaneous abortion, pre- and postpartum bleeding, induction of labour, and caesarean section. In particular, the administration of valproic acid can lead to congenital malformations and a lower IQ of the child. Folic acid seems to have a protective effect. Data concerning breastfeeding are insufficient. CONCLUSIONS: If possible, epilepsy patients should be treated with a low-dose monotherapy during pregnancy and valproic acid should be avoided. Treatment with lamotrigine requires frequent control of serum concentration. Supplementary folic acid (5 mg daily dose) is recommended. Epilepsy is not an indication for a caesarean section.

Using Motion-Sensor Games to Encourage Physical Activity for Adults with Intellectual Disability.

Adults with Intellectual Disability (ID) are at high risk of being in poor health as a result of exercising infrequently; recent evidence indicates this is often due to there being a lack of opportunities to exercise. This pilot study involved an investigation of the use of motion-sensor game technology to enable and encourage exercise for this population. Five adults (two female; 3 male, aged 34-74 [M = 55.20, SD = 16.71] with ID used motion-sensor games to conduct exercise at weekly sessions at a day-centre. Session attendees reported to have enjoyed using the games, and that they would like to use the games in future. Interviews were conducted with six (four female; two male, aged 27-51 [M = 40.20, SD = 11.28]) day-centre staff, which indicated ways in which the motion-sensor games could be improved for use by adults with ID, and barriers to consider in relation to their possible future implementation. Findings indicate motion-sensor games provide a useful, enjoyable and accessible way for adults with ID to exercise. Future research could investigate implementation of motion-sensor games as a method for exercise promotion for this population on a larger scale.

The role of MAGT1 in genetic syndromes.

Disturbances in magnesium homeostasis, often linked to altered expression and/or function of magnesium channels, have been implicated in a plethora of diseases. This review focuses on magnesium transporter 1 (MAGT1), as recently described changes in this gene have further extended our understanding of the role of magnesium in human health and disease. The identification of genetic changes and their functional consequences in patients with immunodeficiency revealed that magnesium and MAGT1 are key molecular players for T cell-mediated immune responses. This led to the description of XMEN (X-linked immunodeficiency with magnesium defect, Epstein Barr Virus infection, and neoplasia) syndrome, for which Mg2+ supplementation has been shown to be beneficial. Similarly, the identification of a copy-number variation (CNV) leading to dysfunctional MAGT1 in a family with atypical ATRX syndrome and skin abnormalities, suggested that the MAGT1 defect could be responsible for the cutaneous problems. On the other hand, recent genetic investigations question the previously proposed role for MAGT1 in intellectual disability. Understanding the molecular basis of the involvement of magnesium and its channels in human pathogenesis will improve opportunities for Mg2+ therapies in the clinic.

Validating the Learning Disability Screening Questionnaire Against the Weschler Adult Intelligence Scale, Fourth Edition.

The Learning Disability Screening Questionnaire (LDSQ), a brief screening tool for intellectual disability, was originally validated against the Weschler Adult Intelligence Scale, Third Edition (WAIS-III), which was superseded by the Weschler Adult Intelligence Scale, Fourth Edition (WAIS-IV) in the United Kingdom in 2010. This study examines the performance of the LDSQ using the WAIS-IV as the diagnostic intellectual assessment. Based on the original optimal cut-off score, the LDSQ sensitivity value was equivalent (91%) to that obtained in the original validation study, and the specificity value was higher at 92%. This suggests that the LDSQ remains valid when using the WAIS-IV as the comparative intellectual assessment.

Implementation of an enhanced probation program: evaluating process and preliminary outcomes.

Supervision, Monitoring, Accountability, Responsibility, and Treatment (SMART) is Kentucky's enhanced probation pilot program modeled after Hawaii's Opportunity Probation with Enforcement (HOPE). SMART is proposed to decrease substance use, new violations, and incarceration-related costs for high-risk probationers by increasing and randomizing drug testing, intensifying supervision, and creating linkages with needed resources (i.e., mental health and substance use). SMART adopts a holistic approach to rehabilitation by addressing mental health and substance abuse needs as well as life skills for fostering deterrence of criminal behavior vs. punitive action only. A mixed methods evaluation was implemented to assess program implementation and effectiveness. Qualitative interviews with key stakeholders (i.e., administration, judges, attorneys, and law enforcement/corrections) suggested successful implementation and collaboration to facilitate the pilot program. Quantitative analyses of secondary Kentucky Offender Management System (KOMS) data (grant Year 1: 07/01/2012-06/30/2013) also suggested program effectiveness. Specifically, SMART probationers showed significantly fewer: violations of probation (1.2 vs. 2.3), positive drug screens (8.6% vs. 29.4%), and days incarcerated (32.5 vs. 118.1) than comparison probationers. Kentucky's SMART enhanced probation shows preliminary success in reducing violations, substance use, and incarceration. Implications for practice and policy will be discussed.

[ESSENCE gathers the diagnoses into a whole]. / ESSENCE samlar diagnoserna till en helhet.

Co-existence of attention-deficit/hyperactivity disorder, oppositional defiant disorder, tic disorders, developmental coordination disorder, language disorder, learning problems, and autism spectrum disorder and sharing of symptoms across disorders, contribute to the typical clinical presentation in child psychiatry as well as in developmental medicine. The acronym ESSENCE refers to Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations. Affected children are brought for clinical assessment because of impairing symptoms that raise concern before the age of about 5 years in general development, communication and language, social inter-relatedness, motor coordination, attention, activity, behaviour, mood, and/or sleep. Such children are usually in need of a range of expert assessments, but a holistic approach is rarely taken from the start. Major problems in at least one ESSENCE domain before 5 years of age predict poor mental health later in life. Expert ESSENCE centres for assessment, habilitation and treatment of these children are needed.

Polyunsaturated fatty acid-enriched diet therapy for a child with epilepsy.

The ketogenic diet (KD) is a high-fat, low-carbohydrate diet with an established efficacy for treating medically refractory epilepsy in children. Fatty acids are the most important constituent of the KD in all aspects of efficacy and complications. Among fatty acids, polyunsaturated fatty acids (PUFAs) increase anticonvulsant properties and reduce the complications associated with the high-fat diet. Here, we report a 7-year-old boy with Lennox-Gastaut syndrome combined with mitochondrial respiratory chain complex I deficiency, whose medically intractable seizures have been successfully controlled with a PUFA-enriched modified Atkins diet without any significant adverse events. The diet consists of canola oil and diverse menu items like fish and nuts instead of olive oil and has an ideal 1:2.8 ratio of omega-3 to omega-6. In addition, fractionation of this boy's plasma showed normal levels of fatty acids, including omega-3 (alpha-linoleic acid, eicosapentaenoic acid) and omega-6 (linoleic acid, arachidonic acid) as well as monounsaturated fatty acids (oleic acid). Plasma docosahexanoic acid remained low after PUFA-enriched diet therapy. PUFA-enriched diet therapy is likely to increase the efficacy of diet therapy and reduce complications of a high-fat diet in children with refractory epilepsy.

AAC intervention using a VOCA for deaf children with multiple disabilities who received cochlear implantation.

OBJECTIVES: The aim of this study was to examine the efficacy of a new habilitation approach, augmentative and alternative communication (AAC) intervention using a voice output communication aid (VOCA), in improving speech perception, speech production, receptive vocabulary skills, and communicative behaviors in children with cochlear implants (CIs) who had multiple disabilities. METHODS: Five children with mental retardation and/or cerebral palsy who had used CIs over two years were included in this study. Five children in the control group were matched to children who had AAC intervention on the basis of the type/severity of their additional disabilities and chronological age. They had limited oral communication skills after cochlear implantation because of their limited cognition and oromotor function. The children attended the AAC intervention with parents once a week for 6 months. We evaluated their performance using formal tests, including the monosyllabic word tests, the articulation test, and the receptive vocabulary test. We also assessed parent-child interactions. We analyzed the data using a one-group pretest and posttest design. RESULTS: The mean scores of the formal tests performed in these children improved from 26% to 48% in the phoneme scores of the monosyllabic word tests, from 17% to 35% in the articulation test, and from 11 to 18.4 in the receptive vocabulary test after AAC intervention (all p < .05). Some children in the control group showed improvement in the speech perception, speech production, and receptive vocabulary tests for 6 months, but the differences did not achieve statistical significance (all p > .05). The frequency of spontaneous communicative behaviors (i.e., vocalization, gestures, and words) and imitative words significantly increased after AAC intervention (p < .05). CONCLUSIONS: AAC intervention using a VOCA was very useful and effective on improving communicative skills in children with multiple disabilities who had very limited oral communication skills after cochlear implantation.