Do children with Williams syndrome really have good vocabulary knowledge? Methods for comparing cognitive and linguistic abilities in developmental disorders

The comparison of cognitive and linguistic skills in individuals with developmental disorders is fraught with methodological and psychometric difficulties. In this paper, we illustrate some of these issues by comparing the receptive vocabulary knowledge and non-verbal reasoning abilities of 41 children with Williams syndrome, a genetic disorder in which language abilities are often claimed to be relatively strong. Data from this group were compared with data from typically developing children, children with Down syndrome, and children with non-specific learning difficulties using a number of approaches including comparison of age-equivalent scores, matching, analysis of covariance, and regression-based standardization. Across these analyses children with Williams syndrome consistently demonstrated relatively good receptive vocabulary knowledge, although this effect appeared strongest in the oldest children.

Research review: reading comprehension in developmental disorders of language and communication

Background: Deficits in reading airment (SLI), Down syndrome (DS) and autism spectrum disorders (ASD). Methods: In this review (based on a search of the ISI Web of Knowledge database to 2011), the Simple View of Reading is used as a framework for considering reading comprehension in these groups. Conclusions: There is substantial evidence for reading comprehension impairments in SLI and growing evidence that weaknesses in this domain are common in DS and ASD. Further, in these groups reading comprehension is typically more impaired than word recognition. However, there is also evidence that some children and adolescents with DS, ASD and a history of SLI develop reading comprehension and word recognition skills at or above the age appropriate level. This review of the literature indicates that factors including word recognition, oral language, nonverbal ability and working memory may explain reading comprehension difficulties in SLI, DS and ASD. In addition, it highlights methodological issues, implications of poor reading comprehension and fruitful areas for future research.

Molecular and Cytogenetic Analyses on Brazilian Youths with Pervasive Developmental Disorders

The Pervasive Developmental Disorders (PDDs) constitute a group of behavioral and neurobiological impairment conditions whose main features are delayed communicative and cognitive development. Genetic factors are reportedly associated with PDDs and particular genetic abnormalities are frequently found in specific diagnostic subgroups such as the autism spectrum disorders. This study evaluated cytogenetic and molecular parameters in 30 youths with autism or other PDDs. The fragile X syndrome was the most common genetic abnormality detected, presented by 1 patient with autism and 1 patient with PPD not-otherwise specified (PPD-NOS). One girl with PDD-NOS was found to have tetrasomy for the 15q11-q13 region, and one patient with autism exhibited in 2/100 metaphases an inv(7)(p15q36), thus suggesting a mosaicism 46,XX/46,XX,inv(7)(p15q36) or representing a coincidental finding. The high frequency of chromosomopathies support the hypothesis that PDDs may develop as a consequence to chromosomal abnormalities and justify the cytogenetic and molecular assessment in all patients with PDDs for establishment of diagnosis.

A dimensão preventiva da intervenção precoce : intervenção psicomotora na creche

O presente relatório tem como principal objetivo apresentar a caracterização do estágio realizado na Equipa Móvel de Desenvolvimento Infantil e Intervenção Precoce (EMDIIP) no âmbito da promoção do desenvolvimento infantil de crianças em contexto de creche, ao longo do segundo ano do mestrado em Reabilitação Psicomotora. Toda a intervenção psicomotora foi planeada consoante os resultados das avaliações formais, das observações informais de cada criança e das preocupações e dificuldades enunciadas pela Educadora de Infância da creche tendo sempre em conta as práticas recomendadas da Intervenção Precoce. Para além das sessões de psicomotricidade realizadas em grupo e individualmente, foi desenvolvido um trabalho de formação parental, com o intuito de promover as interações familiares e divulgar informação sobre o desenvolvimento normal das crianças, e um ajustamento do contexto da sala Arco-Íris. A psicomotricidade revelou ser uma ferramenta essencial na promoção do desenvolvimento infantil não só na sua vertente (re)educativa e terapêutica mas também na sua vertente preventiva.

Reflections on using a community-based and multisystem approach to transforming school-based intervention for children with developmental motor disorders

Evidence-based management of Developmental Coordination Disorder (DCD) in school-age children requires putting into practice the best and most current research findings, including evidence that early identification, self-management, prevention of secondary disability, and enhanced participation are the most appropriate foci of school-based occupational therapy. Partnering for Change (P4C) is a new school-based intervention based upon these principles that has been developed and evaluated in Ontario, Canada over an 8-year period. Our experience to date indicates that its implementation in schools is highly complex with involvement of multiple stakeholders across health and education sectors. In this paper, we describe and reflect upon our team’s experience in using community-based participatory action research, knowledge translation, and implementation science to transform evidence-informed practice with children who have DCD.

Regression, developmental trajectory and associated problems in disorders in the autism spectrum: the SNAP study

We report rates of regression and associated findings in a population derived group of 255 children aged 9-14 years, participating in a prevalence study of autism spectrum disorders (ASD); 53 with narrowly defined autism, 105 with broader ASD and 97 with non-ASD neurodevelopmental problems, drawn from those with special educational needs within a population of 56,946 children. Language regression was reported in 30% with narrowly defined autism, 8% with broader ASD and less than 3% with developmental problems without ASD. A smaller group of children were identified who underwent a less clear setback. Regression was associated with higher rates of autistic symptoms and a deviation in developmental trajectory. Regression was not associated with epilepsy or gastrointestinal problems.

Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders

Alagille syndrome is a rare developmental disorder combining bile duct paucity, congenital cardiopathy, facial dysmorphy, vertebrae defects, and ocular abnormalities; and frequent renal abnormalities. It does not usually predispose to malignancies. Nephroblastoma has been observed in many developmental disorders, but never in Alagille syndrome. We report two original cases of nephroblastoma associated to Alagille syndrome. We identified a new V136G JAG1 missense mutation in one patient and a constitutional deletion of 20p12 in the other. In one nephroblastoma an additional somatic 1p36 deletion was present. The link between Alagille syndrome, JAG1 alterations and nephroblastoma is discussed.

Community introduction of practice parameters for autistic spectrum disorders: Advancing early recognition.

OBJECTIVES: Within a strong interdisciplinary framework, improvement in the quality of care for children with autistic spectrum disorders through a 2 year implementation program of Practice Parameters, aimed principally at improving early detection and intervention. METHOD: We developed Practice Parameters (PPs) for Pervasive Developmental Disorders and circulated the PPs to all child and adolescent psychiatrists practicing in the region. RESULTS: PP development and parallel information strategies resulted in a significant decrease of 1.5 years in the mean-age-at-diagnosis. However, further analysis indicated that improvement was only transient. CONCLUSION: Despite the encouraging improvement in mean-age-at-diagnosis 2 years after PP implementation, other indicators showed a failure to maintain the improvements. A systematic screening program would be the most reliable method to reinforce the PPs.

Early-onset acquired epileptic aphasia (Landau-Kleffner syndrome, LKS) and regressive autistic disorders with epileptic EEG abnormalities: the continuing debate.

Early-onset acquired epileptic aphasia (Landau-Kleffner syndrome) may present as a developmental language disturbance and the affected child may also exhibit autistic features. Landau-Kleffner is now seen as the rare and severe end of a spectrum of cognitive-behavioural symptoms that can be seen in idiopathic (genetic) focal epilepsies of childhood, the benign end being the more frequent typical rolandic epilepsy. Several recent studies show that many children with rolandic epilepsy have minor developmental cognitive and behavioural problems and that some undergo a deterioration (usually temporary) in these domains, the so-called "atypical" forms of the syndrome. The severity and type of deterioration correlate with the site and spread of the epileptic spikes recorded on the electroencephalogram within the perisylvian region, and continuous spike-waves during sleep (CSWS) frequently occur during this period of the epileptic disorder. Some of these children have more severe preexisting communicative and language developmental disorders. If early stagnation or regression occurs in these domains, it presumably reflects epileptic activity in networks outside the perisylvian area, i.e. those involved in social cognition and emotions. Longitudinal studies will be necessary to find out if and how much the bioelectrical abnormalities play a causal role in these subgroup of children with both various degrees of language and autistic regression and features of idiopathic focal epilepsy. One has to remember that it took nearly 40 years to fully acknowledge the epileptic origin of aphasia in Landau-Kleffner syndrome and the milder acquired cognitive problems in rolandic epilepsies.

Multisystem Developmental Disorder in Children from 2 to 6 Years Old : A Three Years Follow-Up Study

This research studied children who had been diagnosed with Multisystem Developmental Disorder (MSDD) (NC, 2002) under the Diagnostic Classifications of Mental Health and Developmental Disorders of Infancy and Early Childhood (DC: 0 - 3). They all showed, to a varying degree, difficulties in relating to others, play, affective interaction and severe delay in developing communication skills. Some studies have observed continuity in the diagnosis of autism during the first years of life. The objective of this study is to analyse the development of infants with MSDD whose diagnosis of autism was not confirmed. We also attempted to verify any possible psychomotor developmental differences based on, or related to, the severity and typology (B and C) of the MSDD. To enable us to do this we carried out a 3-year follow-up during which we assessed the infants (n = 15) and their parents. They are 2 - 4 years old. Results showed that type B children did present a greater impairment of psychomotor development in assessment tests. However, we did not observe any correlation between the degree of severity of the initial symptoms and later diagnoses. Conclusion: although our sample is small, we can conclude that there isn’t a clear evolution in the diagnosis, but we have found significant differences in the symptomatology between the type B and C

An assessment of autism knowledge in the medical field

Once thought to be rare, pervasive developmental disorders (PDDs) are now recognized as the most common neurological disorders affecting children and one of the most common developmental disabilities (DD) in Canada (Autism Society of Canada, 2006). Recent reports indicate that PDDs currently affect 1 in 150 children (Centre for Disease Control and Prevention, 2007). The purpose of this research was to provide an understanding of medical resident and practicing physicians' basic knowledge regarding PDDs. With a population of children with PDDs who present with varying symptoms, the ability for medical professionals to provide general information, diagnosis, appropriate referrals, and medical care can be quite complex. A basic knowledge of the disorder is only a first step in providing adequate medical care to individuals with autism and their families. An updated version of Stone's (1987) Autism survey was administered to medical residents at four medical schools in Canada and currently practicing physicians at three medical schools and one community health network. As well, a group of professionals specializing in the field ofPDDs, participating in research and clinical practice, were surveyed as an 'expert' group to act as a control measure. Expert responses were consistent with current research in the field. General findings indicated few differences in overall knowledge between residents and physicians, with misconceptions evident in areas such as the nature of the disorder, qualitative characteristics of autism, and effective interventions. Results were also examined by specialty and, while pediatricians demonstrated additional accurate 11 knowledge regarding the nature of the disorder and select qualitative impairments, both residents and practicing physicians demonstrated misconceptions about PDDs. This preliminary study replicated the findings of Stone (1987) and Heidgerken (2005) concerning several misconceptions of PDDs held by residents and practicing physicians. Future research should focus on additional replications with validated measures as well as the gathering of qualitative information, in order to inform the medical profession of the need for education in PDDs at training and professional levels.

Acknowledging mother's lived experience of raising a child with Autism : a phenomenological inquiry

Autism is one of those human ambiguities that forces vigilant open-mindednesssometimes this open-mindedness comes without choice, for example when you become the mother of a child with autism. Recent reports indicate that Pervasive Developmental Disorders affect 1 in 150 children (Centre for Disease Control and Prevention, 2007). This also means that there are many families caring for children with autism. The purpose of this research was to explore the day to day lived experiences of mothers caring for a child with autism. With a drastic increase in children diagnosed with autism, and very little research on mothers themselves, assisting in articulating lived experiences from mothers themselves seemed like an acceptable first step. Mothers were asked to journal for a period of one month, once a week, as well as participate in a focus group. Findings from both of these techniques were analyzed using underpinnings from Amelio Giorgi and Max van Manen. General findings indicate that mothers present poignant narratives about living with their child. It becomes clear that mothers are stressed, and live a complicated and often contradictory existence. Many days are fraught with struggle, anticipation, watchful eyes, judgment and guilt. There is a constant battle waging; the one within themselves, and the one with an uninformed and uncooperative public. Given that this research contributes to an extremely small body of qualitative research on mothers, future research should continue to gain insight from mothers, without classifying or categorizing their words. Their words speak volumes. Professionals may know autism, but mothers know their children.

Eficacia y seguridad de la melatonina para el manejo de los trastornos del sueño en el autismo: meta-análisis

INTRODUCCIÓN: El 80% de los niños y adolescentes con trastornos del espectro autista (TEA) presenta algún trastorno del sueño, en cuya génesis al parecer intervienen alteraciones en la regulación de la melatonina. El objetivo de este metaanálisis fue determinar la eficacia y seguridad de la melatonina para el manejo de ciertos trastornos del sueño en niños con TEA. MÉTODOS: Tres revisores extrajeron los datos relevantes de los ensayos clínicos aleatorizados doble ciego de alta calidad publicados en bases de datos primarias, de ensayos clínicos, de revisiones sistemáticas y de literatura gris; además se realizó búsqueda en bola de nieve. Se analizaron los datos con RevMan 5.3. Se realizó un análisis del inverso de la varianza por un modelo de efectos aleatorios para las diferencias de medias de los desenlaces propuestos: duración del tiempo total, latencia de sueño y número de despertares nocturnos. Se evaluó la heterogeneidad interestudios con el parámetro I2 RESULTADOS: La búsqueda inicial arrojó 355 resultados, de los cuales tres cumplieron los criterios de selección. La melatonina resultó ser un medicamento seguro y eficaz para aumentar la duración total del sueño y disminuir la latencia de sueño en niños y adolescentes con TEA; hasta el momento la evidencia sobre el número de despertares nocturnos no es estadísticamente significativa. DISCUSIÓN: A la luz de la evidencia disponible, la melatonina es una elección segura y eficaz para el manejo de ciertos problemas del sueño en niños y adolescentes con TEA. Es necesario realizar estudios con mayores tamaños muestrales y comparados con otros medicamentos disponibles en el mercado.

Reading comprehension in autism spectrum disorders: The role of oral language and social functioning

Reading comprehension is an area of difficulty for many individuals with autism spectrum disorders (ASD). According to the Simple View of Reading, word recognition and oral language are both important determinants of reading comprehension ability. We provide a novel test of this model in 100 adolescents with ASD of varying intellectual ability. Further, we explore whether reading comprehension is additionally influenced by individual differences in social behaviour and social cognition in ASD. Adolescents with ASD aged 14-16 years completed assessments indexing word recognition, oral language, reading comprehension, social behaviour and social cognition. Regression analyses show that both word recognition and oral language explain unique variance in reading comprehension. Further, measures of social behaviour and social cognition predict reading comprehension after controlling for the variance explained by word recognition and oral language. This indicates that word recognition, oral language and social impairments may constrain reading comprehension in ASD.