Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update

Oculo-auriculo-vertebral spectrum (OAVS, OMIM 164 210) is a developmental disorder primarily involving structures derived from the first and second pharyngeal arches during embryogenesis. The phenotype is clinically heterogeneous and is typically characterised by abnormal development of the ear, mandible anomalies and defects of the vertebral column. OAVS may occur as a multiple congenital abnormality, and associated findings include anomalies of the eye, brain, heart, kidneys and other organs and systems. Both genetic and environmental factors are thought to contribute to this craniofacial condition, however, the mechanisms are still poorly understood. Here, we present a review of the literature on OAVS, discussing what is known about the aetiology, candidate loci, possible mechanisms and the range of clinical features that characterise this condition. We also comment on some important aspects of recurrence risk counselling to aid clinical management.

Verhaltens- und fertigkeitenbasierte Frühinterventionen bei Kindern mit Autismus

Einleitung: Zu den autistischen Syndromen werden der frühkindliche Autismus (Kanner-Syndrom), das Asperger-Syndrom und atypische Autismusformen oder nicht-spezifizierte tiefgreifende Entwicklungsstörungen gezählt. Bei den autistischen Syndromen liegen Beeinträchtigungen (1) der Kommunikation und (2) der sozialen Interaktion vor. Weiterhin weisen (3) die Kinder in unterschiedlichem Maß stereotypes, repetitives Verhalten auf und haben bestimmte Sonderinteressen. Verhaltensbasierte Frühinterventionen bei Kindern mit Autismus basieren auf lerntheoretischen und verhaltenstherapeutischen Konzepten. Sie berücksichtigen die besonderen vorliegenden Beeinträchtigungen in der Wahrnehmung, der emotionalen Reaktionen, der sozialen Interaktionen sowie der Kommunikationsmuster. Die systematische Anwendung und Evaluation solcher Modelle in Deutschland ist aber bisher eher die Ausnahme. Fragestellungen: - Wie sind die gesundheitliche Effektivität und Sicherheit von verhaltens- oder fertigkeitenbasierten Frühinterventionen bei autistischen Syndromen untereinander und verglichen mit einer Standardbehandlung? - Gibt es Hinweise auf besondere Wirkfaktoren für die Effektivität? - Wie ist die Kosten-Effektivität? - Wie hoch sind die Kosten der verschiedenen Interventionen? - Lassen sich aus ethischen und rechtlichen Überlegungen Schlüsse für die Anwendung der betrachteten Interventionen bei Betroffenen mit autistischem Syndrom in der Praxis ziehen? Methoden: Basierend auf einer systematischen Literaturrecherche werden ab 2000 in deutscher oder englischer Sprache veröffentlichte kontrollierte Studien zu verhaltens- oder fertigkeitenbasierten Frühinterventionen bei Kindern mit Autismus im Alter von bis zu zwölf Jahren eingeschlossen und bewertet. Die Mindestzahl an Studienteilnehmern muss zehn pro Interventionsgruppe betragen. Ergebnisse: Insgesamt 15 Veröffentlichungen klinischer Primärstudien, acht systematische Reviews und eine ökonomische Veröffentlichung erfüllen die Einschlusskriterien. Die meisten Studien evaluieren intensive Frühinterventionen, die sich an das Modell von Lovaas (Early intensive behavioural treatment (EIBT), Applied behavioural analysis (ABA)) anlehnen. Einige Studien evaluieren andere Interventionen, die teilweise pragmatisch waren und teilweise einem bestimmten Modell folgen (spezifisches Elterntraining, Responsive education and prelinguistic milieu teaching (RPMT), Joint attention (JA) und symbolisches Spielen (SP), Picture exchange communication system (PECS)). Verhaltensanalytische Interventionen basierend auf dem Lovaas-Modell können weiterhin als die am besten empirisch abgesicherten Frühinterventionen angesehen werden. Vorschulkinder mit Autismus können durch verhaltensbasierte Interventionen mit einer Mindestintensität von 20 Stunden pro Woche Verbesserungen in kognitiven und funktionalen Bereichen (expressive Sprache, Sprachverständnis und Kommunikation) erreichen. Es bleibt jedoch unklar, welche Mindestintensität notwendig ist, und welche Wirkkomponenten für die Ergebnisse verantwortlich sind. Für andere umfassende Frühinterventionen bei Kindern mit Autismus liegt keine hochwertige Evidenz vor. Die für den ökonomischen Teilbereich identifizierte und einbezogene Publikation ist methodisch und thematisch nicht dazu geeignet, die Fragen nach der Kosten-Effektivität oder den Kostenwirkungen von Frühinterventionen beim Autismus auch nur ansatzweise zu beantworten. Publikationen zu rechtlichen, ethischen oder sozialen Aspekten werden nicht identifiziert. Die finanzielle Lage der Betroffenen und der Familien wird durch das Pflege-Weiterentwicklungsgesetz (Pf-WG) verbessert. Weitere rechtliche Belange betreffen die Betreuung und die Deliktfähigkeit der Menschen mit Autismus. Auch die gleichheitliche Betreuung und Versorgung sind insbesondere vor dem Hintergrund der Pflege im häuslichen Umfeld eine wichtige Frage. Diskussion: Es gibt nur wenige methodisch angemessene Studien zur Beurteilung der Wirksamkeit von Frühinterventionen bei Kindern mit Autismus. Die meisten Studien sind vergleichsweise kurz und haben teilsweise kein verblindetes Ergebnis-Rating. Der Mangel an hochwertigen vergleichenden Studien lässt keine solide Antwort auf die Frage zu, welche Frühintervention bei welchen Kindern mit Autismus am wirksamsten ist. Programme nach dem Lovaas-Modell scheinen am wirkungsvollsten zu sein. Dies gilt vor allem, wenn sie klinikbasiert durchgeführt werden. Zu einzelnen Wirkfaktoren von Frühinterventionen nach dem ABA-Modell konnte allerdings keine solide Evidenz gefunden werden. Es zeigte sich, dass ein Elterntraining hinsichtlich der Verbesserung der Kommunikation besser ist als eine Routinebehandlung, in der eine Mischung von Theapieelementen angewendet wird. Sowohl für die klinischen als auch die gesundheitsökonomischen Studien besteht das Problem unzureichender Verallgemeinerbarkeit der Studienergebnisse in den deutschen Versorgungskontext. Die ökonomischen Studien sind methodisch und thematisch nicht dazu geeignet die aufgeworfenen Fragestellungen zu beantworten. Schlussfolgerung: Basierend auf der derzeitigen Studienlage liegt für keine der untersuchten verhaltensbasierten Frühinterventionen bei Kindern mit Autismus ausreichende Evidenz vor. Die in diesem Bericht ausgewerteten Studien und Reviews legen nahe, dass Vorschulkinder mit Autismus durch verhaltensbasierte Interventionen mit einer Mindestintensität von 20 Stunden pro Woche Verbesserungen in kognitiven und funktionalen Bereichen erreichen können. Es gibt bisher keine Hinweise, dass bei einem substantiellen Anteil der Kinder eine vollständige Normalisierung der Entwicklung erreicht werden kann. Die meiste Evidenz liegt für die ABA vor. Ein Minimum an erforderlicher oder sinnvoller Behandlungsintensität kann jedoch nicht angegeben werden. Eine professionelle Umsetzung eines verhaltensbasierten Frühinterventionsprogrammes in engem und ausführlichem Kontakt mit den Kindern und unter Einbeziehung der Eltern erscheint sinnvoll. Zur Kosten-Effektivität von intensiven Frühinterventionen bei Kindern mit Autismus können keine validen Angaben gemacht werden. Effektive Frühinterventionen könnten jedoch die Gesamtkosten des Autismus langfristig reduzieren, indem die anfallenden hohen Aufwendungen durch eine spätere bessere soziale Anpassung überkompensiert werden.

Reacções psicológicas e estratégias de coping parentais, face ao diagnóstico de perturbação do espectro do autismo, de um filho

Dissertação de Mestrado apresentada ao Instituto Superior de Psicologia Aplicada para obtenção de grau de Mestre na especialidade de Psicologia Clínica.

Estágio de psicomotricidade em contexto de lar de infância e juventude e centro de atividades de tempos livres

O presente relatório refere-se ao estágio profissionalizante de Reabilitação Psicomotora, realizado no ano letivo 2014/ 2015, na Fundação O Século, em Lar de Infância e Juventude e Centro de Atividades de Tempos Livres. As crianças institucionalizadas pelas suas histórias de vida, apresentam fenótipos particulares, nomeadamente ao nível emocional, psicológico, do comportamento e da linguagem. A Dificuldade Intelectual e Desenvolvimental (DID) é uma perturbação do desenvolvimento que altera o funcionamento a nível cognitivo, motor, psicomotor, de linguagem e de funcionamento executivo. Foram dinamizadas sessões individuais com uma criança e um jovem com DID e um grupo. O estudo de caso reporta-se à criança com DID, com quem se desenvolveram sessões de psicomotricidade. Os instrumentos utilizados foram a Bateria Psicomotora e o Inventário Comportamental de Avaliação de Funções Executivas. Observou-se que a criança melhorou as competências psicomotoras, mas que houve uma manutenção nas Funções Executivas.

Evaluation of Neurodevelopment and Factors Affecting it in Children With Acyanotic Congenital Cardiac Disease

Background: The rate of congenital heart disease is 0.8% in all live births. The majority of this, however, is acyanotic congenital heart disease. The survival rate of children with cardiac disease has increased with the developments provided in recent years and their lifetime is extended. Objectives: This study aims to evaluate neurodevelopment of children with uncomplicated acyanotic congenital heart disease in preschool period and determine the factors affecting their neurodevelopmental process. Patients and Methods: 132 children with acyanotic congenital heart disease aged 6 - 72 months were involved in the study. Mental development and intelligence levels of patients under 2 years old were assessed by using Bayley Development Scale-III, and Stanford Binet Intelligence test was employed for patients over 2 years old. Denver Developmental Screening Test II was applied to all patients for their personal-social, fine motor, gross motor and language development. Results: The average age of patients (67 girls, 65 boys) included in the study was 35.2 ± 19.6 months. It was determined that there were subnormal mental level in 13 (10%) patients and at least one specific developmental disorder in 33 (25%) patients. Bayley Mental Development Scale score of patients who had received incubator care in perinatal period was found significantly low (88 ± 4.2) compared to those with no incubator care (93.17 ± 8.5) (P = 0.028). Low educational level of father was established to be linked with low mental development scores at the age of 2 and following that age (P < 0.05). Iron deficiency anemia was discovered to be related to low psychometric test scores at every age (P < 0.05). Conclusions: Neurodevelopmental problems in children with acyanotic congenital heart disease were found higher compared to those in society. Mental development and intelligence levels of patients were determined to be closely associated with receiving incubator care, father’s educational level and iron deficiency anemia.

Defining a developmental subtype of bipolar disorder in a sample of nonreferred adults by age at onset

Objective To test the hypothesis that the age at onset of bipolar disorder would identify a developmental subtype of bipolar disorder in adults characterized by increased levels of irritability, chronic course, rapid cycling, and comorbidity with attention deficit hyperactivity disorder. Methods Forty-four adult subjects diagnosed with bipolar disorder were selected from large family studies of youth with and without attention deficit hyperactivity disorder. These subjects were stratified by the age at onset in childhood (younger than 13 years; n = 8, 18%), adolescence (13–18 years; n = 12, 27%, or adulthood (older than 19 years; n = 24, 55%). All subjects were administered structure diagnostic interviews and a brief cognitive battery. Results In contrast with adult-onset bipolar disorder, child-onset bipolar disorder was associated with a longer duration of illness, more irritability than euphoria, a mixed presentation, a more chronic or rapid-cycling course, and increased comorbidity with childhood disruptive behavior disorders and anxiety disorders. Conclusion Stratification by age at onset of bipolar disorder identified subgroups of adult subjects with differing clinical correlates. This pattern of correlates is consistent with findings documented in children with pediatric bipolar disorder and supports the hypothesis that child-onset bipolar disorder may represent a developmental subtype of the disorder.

A systematic review of instruments for assessment of capacity in activities of daily living in children with developmental co-ordination disorder

Children with developmental co-ordination disorder (DCD) face evident motor difficulties in activities of daily living (ADL). Assessment of their capacity in ADL is essential for diagnosis and intervention, in order to limit the daily consequences of the disorder. The aim of this study is to systematically review potential instruments for standardized and objective assessment of children's capacity in ADL, suited for children with DCD. As a first step, databases of MEDLINE, EMBASE, CINAHL and PsycINFO were searched to identify studies that described instruments with potential for assessment of capacity in ADL. Second, instruments were included for review when two independent reviewers agreed that the instruments: (1) are standardized and objective; (2) assess at activity level and comprise items that reflect ADL, and; (3) are applicable to school-aged children that can move independently. Out of 1507 publications, 66 publications were selected, describing 39 instruments. Seven of these instruments were found to fulfil the criteria and were included for review: the Bruininks-Oseretsky Test of Motor Performance-2 (BOT2); the Do-Eat (Do-Eat); the Movement Assessment Battery for Children-2 (MABC2); the school-Assessment of Motor and Process Skills (schoolAMPS); the Tuffts Assessment of Motor Performance (TAMP); the Test of Gross Motor Development (TGMD); and the Functional Independence Measure for Children (WeeFIM). As a third step, for the included instruments, suitability for children with DCD was discussed based on the ADL comprised, ecological validity and other psychometric properties. We concluded that current instruments do not provide comprehensive and ecologically valid assessment of capacity in ADL as required for children with DCD.

Activities of daily living in children with developmental coordination disorder: Performance, learning, and participation

Background Children with developmental coordination disorder (DCD) face evident motor difficulties in daily functioning. Little is known, however, about their difficulties in specific activities of daily living (ADL). Objective The purposes of this study were: (1) to investigate differences between children with DCD and their peers with typical development for ADL performance, learning, and participation, and (2) to explore the predictive values of these aspects. Design. This was a cross-sectional study. Methods In both a clinical sample of children diagnosed with DCD (n=25 [21 male, 4 female], age range=5-8 years) and a group of peers with typical development (25 matched controls), the children’s parents completed the DCDDaily-Q. Differences in scores between the groups were investigated using t tests for performance and participation and Pearson chi-square analysis for learning. Multiple regression analyses were performed to explore the predictive values of performance, learning, and participation. Results Compared with their peers, children with DCD showed poor performance of ADL and less frequent participation in some ADL. Children with DCD demonstrated heterogeneous patterns of performance (poor in 10%-80% of the items) and learning (delayed in 0%-100% of the items). In the DCD group, delays in learning of ADL were a predictor for poor performance of ADL, and poor performance of ADL was a predictor for less frequent participation in ADL compared with the control group. Limitations A limited number of children with DCD were addressed in this study. Conclusions This study highlights the impact of DCD on children’s daily lives and the need for tailored intervention.

Development and psychometric properties of the DCDDaily: a new test for clinical assessment of capacity in activities of daily living in children with developmental coordination disorder

Objective To develop the DCDDaily, an instrument for objective and standardized clinical assessment of capacity in activities of daily living (ADL) in children with developmental coordination disorder (DCD), and to investigate its usability, reliability, and validity. Subjects Five to eight-year-old children with and without DCD. Main measures The DCDDaily was developed based on thorough review of the literature and extensive expert involvement. To investigate the usability (assessment time and feasibility), reliability (internal consistency and repeatability), and validity (concurrent and discriminant validity) of the DCDDaily, children were assessed with the DCDDaily and the Movement Assessment Battery for Children-2 Test, and their parents filled in the Movement Assessment Battery for Children-2 Checklist and Developmental Coordination Disorder Questionnaire. Results 459 children were assessed (DCD group, n = 55; normative reference group, n = 404). Assessment was possible within 30 minutes and in any clinical setting. For internal consistency, Cronbach’s α = 0.83. Intraclass correlation = 0.87 for test–retest reliability and 0.89 for inter-rater reliability. Concurrent correlations with Movement Assessment Battery for Children-2 Test and questionnaires were ρ = −0.494, 0.239, and −0.284, p < 0.001. Discriminant validity measures showed significantly worse performance in the DCD group than in the control group (mean (SD) score 33 (5.6) versus 26 (4.3), p < 0.001). The area under curve characteristic = 0.872, sensitivity and specificity were 80%. Conclusions The DCDDaily is a valid and reliable instrument for clinical assessment of capacity in ADL, that is feasible for use in clinical practice.

Developmental coordination disorder in extremely low birth weight children at nine years

Developmental coordination disorder (DCD) is defined as an impairment in the development of motor coordination that interferes with academic achievement or activities of daily living (DSM-IV). DCD has been reported to affect 5% to 9% of children in the normal population. This study describes the prevalence of DCD in a cohort of extremely low birth weight children (ELBW, <or = l800 g) at 8.9 years of age, from which were excluded children with major impairments. Seventy-three children were included in the study group, along with 18 term-born, socially matched controls. Of the 73 ELBW children, 37 (51%) were classified as having DCD. ELBW children with DCD also had significantly lower Performance IQ (PIQ) scores and were more likely (43%) to have a learning difficulty in arithmetic than ELBW children who did not have DCD. This study found that DCD is a common problem in school-aged ELBW children.

Impact of an evidence-based online module on best practice in physical therapy for children with developmental coordination disorder: a mixed methods study

Aims : This study evaluates the impact of a Developmental Coordination Disorder (DCD) evidence-based online module including synthesized resources, practical strategies, and interactive component on self-reported physical therapist (PT) knowledge, skills, and practice. Methods : PTs from across Canada completed questionnaires before, immediately after, and 2 months following completion of the module. Questionnaires used 7-point Likert scale items and short open-ended questions; analyzes used paired t-tests and a thematic approach. Results : Fifty PTs completed both pre- and post-questionnaires; 41 of these completed the follow-up questionnaire. Most items (79%) evaluating self-reported knowledge and skills increased significantly following module completion and this increase was maintained two months later. Most participants (92%) reported an increase in their confidence to provide DCD evidence-based services. Participants plan to modify their evaluative practices (e.g., involving children in goal setting) and their management of DCD (e.g., using best practice principles, providing resources to families and physicians). At the 2- month follow-up, 46% of participants had returned to the module to review information (e.g., video, resources) or to download handouts. Conclusion : An online module developed collaboratively with PTs has the potential not only to increase PTs’ knowledge, but also to support them in implementing evidence-based services for children with DCD.

Working with physical therapists to develop and evaluate an evidence-based online module for Developmental Coordination Disorder (DCD): bridging the knowledge-to-practice gap

Aims: Developmental Coordination Disorder (DCD) is a chronic condition with potential negative health consequences. Clinicians working with children with DCD need access to tailored, synthesized, evidence-based DCD information; however a knowledge-to-practice gap exists. The aim of this study was to develop and evaluate an evidence-based online DCD module tailored to physical therapists’ (PTs) identified needs. Methods: Guided by the Knowledge to Action framework, we interviewed PTs working with children with DCD (n=9) to identify their information needs. Their recommendations, along with synthesized DCD research evidence, informed module development. PTs (n=50) responded to scaled items and open-ended questions to evaluate module usefulness. Results: The module incorporated important PT DCD content areas including: 1) Identification; 2) Planning Interventions and Goals; 3) Evidence-Based Practice; 4) Management; and, 5) Resources. Case scenarios, clinical applications, interactive media, links to resources, and interactive learning opportunities were also embedded. PTs perceived the module to be comprehensive and useful and provided feedback to improve module navigation. Conclusions: Involving end-users throughout the development and evaluation of an online PT DCD module contributed to its relevance, applicability, and utility. The ongoing clinical use of this module may have the potential to improve the quality of PT DCD services.