What I Wish I Knew Then...Reflections from Personal Experiences in Counseling about Down Syndrome

Sharing the news about a newborn baby’s diagnosis of Down syndrome with families is a scenario genetic counselors frequently face. Yet often we may feel uncomfortable or unsure how to best support families in this setting in a way that will foster competence and resilience. This commentary is a reflection of one genetic counselor’s experiences in counseling about Down syndrome over the course of her career and how her thinking has transitioned from a medical based model of disability to a more individual and family-focused model. Ideas and suggestions are offered that genetic counselors can incorporate into their practice.     

Global dot integration in typically developing children and in Williams Syndrome

Williams Syndrome (WS) is a neurodevelopmental disorder that results in deficits in visuospatial perception and cognition. The dorsal stream vulnerability hypothesis in WS predicts that visual motion processes are more susceptible to damage than visual form processes. We asked WS participants and typically developing children to detect the global structure Glass patterns, under “static” and “dynamic” conditions in order to evaluate this hypothesis. Sequentially presented Glass patterns are coined as dynamic because they induce illusory motion, which is modeled after the interaction between orientation (form) and direction (motion) mechanisms. If the dorsal stream vulnerability holds in WS participants, then they should process real and illusory motion atypically. However, results are consistent with the idea that form and motion integration mechanisms are functionally delayed or attenuated in WS. Form coherence thresholds for both static and dynamic Glass patterns in WS were similar to those of 4–5 year old children, younger than what is predicted by mental age. Dynamic presentation of Glass patterns improved thresholds to the same degree as typical participants. Motion coherence thresholds in WS were similar to those of mental age matches. These data pose constraints on the dorsal vulnerability hypothesis, and refine our understanding of the relationship between form and motion processing in development.     

Symptoms of Meares-Irlen/Visual Stress Syndrome in subjects diagnosed with Chronic Fatigue Syndrome

Several diagnostic symptoms of the visual-processing deficit Meares-Irlen/Visual Stress Syndrome are remarkably similar to symptom manifestations reported by individuals with chronic fatigue syndrome (CFS). We surveyed the specific incidences of nine widely-recognised symptoms of visual stress (VS) in a group of subjects (n = 20) previously diagnosed with CFS. The presence of each symptom of VS in the CFS group was compared to its respective presence in both an age and sex matched healthy comparison group (n = 46), and an age and sex matched group comprised of individuals (n = 14) diagnosed with VS. Results showed the frequencies of all nine VS symptoms in the CFS-diagnosed group to be significantly higher (p = .032 – p < .0005) than in the comparison group, with only two symptoms being statistically less frequent in the CFS group than in the VS-diagnosed group. The average number of VS symptoms reported by the CFS group was also significantly higher than the comparison group, yet not significantly different from the VS group. Thus, the occurrence of VS symptoms in subjects diagnosed with CFS appears to be far greater than previously reported, which in turn may indicate the interplay of some yet to be identified underlying factor(s) common to both conditions.     

Adaptation of the Children's Friendship Training Program for Children with Fetal Alcohol Spectrum Disorders

ABSTRACT

Previous research attests to the marked impairments in social functioning exhibited by children with Fetal Alcohol Spectrum Disorders (FASD), suggesting that such children are in need of social skills intervention. Recently, an existing evidence-based manualized behavioral treatment for improving children's friendships was implemented and demonstrated to be effective with children aged 6–12, diagnosed with FASD. In the present report, we describe methods for adapting this behavioral intervention in line with the specific cognitive and behavioral deficits seen in children with FASD and other developmental disabilities to enhance treatment efficacy.     

Finger gnosia: a predictor of numerical abilities in children?

This paper aimed to test the specificity of predicting power of finger gnosia on later numerical abilities in school-age children and to contribute to the understanding of this effect. Forty-one children were tested in the beginning of Grade 1 on finger gnosia, left–right orientation (another sign of the Gerstmann “syndrome”), and global development. Fifteen months later, numerical and reading abilities were assessed. Analyses of the results indicated that, contrary to the general measures of cognitive development, performance in the finger gnosia test was a good predictor of numerical skills 1 year later but not of reading skills, which proves the specificity of that predictor. The same conclusion was also true for the left–right orientation. However, finger gnosia could equally predict performance in numerical tasks that do or do not rely heavily on finger representation or on magnitude representation. Results are discussed in terms of the localizationist and the functional hypotheses.     

Working Memory and Cognitive Skills in Individuals with Down Syndrome

This work is aimed at analyzing working memory (WM) components and their relationships with other cognitive processes in individuals with Down syndrome (DS). Particular attention is given to examine whether a verbal WM deficit is due to difficulties in verbal abilities often showed by individuals with DS, or whether it is a deficit per se. A group of 20 individuals with DS was compared to a group of 20 typically developing (TD) children matched on vocabulary comprehension and to a group of 20 TD children matched on general verbal intelligence. The groups received a battery of 3 verbal and 3 visuospatial WM tasks requiring different degrees of control, and tests assessing verbal abilities (WPPSI verbal scale, PPVT), nonverbal skills (WPPSI performance scale), and logical thinking (LO). The results revealed that individuals with DS have deficits in both central executive (control) and verbal components of the WM system, and the latter one is independent of the general verbal abilities deficit. The data suggest that the development of central executive proceeds at a slower rate in individuals with DS and differently from TD children with comparable verbal abilities. The performance of individuals with DS on high-control WM tasks requires additional general resources that are strictly linked to intelligence.     

A Nonverbal Learning Disability in a Case of Central Hypoventilation Syndrome without a PHOX2B Gene Mutation

This study examines the neuropsychological profile of a boy with congenital central hypoventilation syndrome (CCHS) without a paired-like homeobox gene (PHOX2B) mutation. CCHS is a rare disorder of autonomic nervous system development characterized by an impaired ventilatory response to hypercarbia and hypoxemia. Mild intellectual deficits are common but a specific cognitive profile is not established in CCHS. We describe a nonverbal learning disorder as a CCHS endophenotype and recommend that detailed neuropsychological testing be performed on all individuals with CCHS. Defining the psycho-educational needs in CCHS may avert compounding the emotional and medical stresses of this already debilitating disorder.     

Estudio sobre el desarrollo de la función semiótica en los niños con síndrome de Down (SD)

Resumen

En este artículo se analizan las conclusiones de diversas investigaciones realizadas en torno al desarrollo cognitivo de los niños con síndrome de Down. Nos centramos en el período en el que se inicia y desarrolla la función semiótica; en la etapa en la que el niño empieza a liberarse de los condicionamientos físicos y se vincula al mundo en términos de significados. Los estudios longitudinales de Vendrell (2003) realizados en base a la observación del juego infantil, nos ofrecen unos resultados que ayudan a redefinir algunos de los procesos evolutivos de estos niños, en ellos se manifiestan diferencias significativas respecto de los niños sin síndrome, y también características a considerar en cuanto al nivel de complejidad del juego. Son determinantes claros de estos niveles la cantidad y calidad de los elementos que participan en una actividad determinada, así como el número de acciones encadenadas en las secuencias de juego. Sin duda el hecho de incrementar el conocimiento de las características del desarrollo cognitivo de los niños con síndrome de Down, favorecerá una mejor mediación o intervención del adulto.     

Psicobiología del síndrome de Down

Resumen

En este artículo revisamos los conocimientos que existen en la actualidad sobre el síndrome de Down, atendiendo a todos aquellos aspectos que, por su relevancia, facilitan una mejor comprensión de esta cromosomopatía. Después de una breve reseña histórica, y tras definir lo que se entiende por síndrome de Down, pasamos a ocuparnos de la alteración genética que lo determina, así como de los factores que parecen estar relacionados con su origen. A continuación estudiamos las alteraciones específicas que acompañan a este síndrome, considerando principalmente los aspectos morfológicos externos, el problema de la hipotonía muscular y otros trastornos biomédicos, el retraso mental y las diversas anomalías neuroanatómicas y neurofisiológicas que presentan los sujetos afectados. Por último, indicamos las nuevas perspectivas que se abren en el estudio de esta alteración genética.     

‘If I knew where the enemy,or even Germany was,we could have fired in that direction’: Bion's experience of war

The role of a child psychotherapist's gender is not often considered in terms of treatment outcome. This paper discusses how aspects of being a male child psychotherapist influenced the successful treatment of a very young boy with Asperger's Syndrome. The paper highlights how the nature of his very early relationship with his mother and the absence of his father were the basis of his difficulties resulting in that diagnosis. It shows that his desire to seize the opportunity of working with a male enabled him to understand his feelings about his father, why it was so difficult to want to be with him and not his mother, and why he could not be without her.

Le rôle joué par le sexe du psychothérapeute d'enfants dans les effets du traitement est rarement pris en compte. Dans cet article, l'auteur montre qu'à un certain niveau le fait d'être un psychothérapeute homme eut une influence sur la réussite de la thérapie d'un très jeune garçon présentant un syndrome d'Asperger. Selon l'auteur, la nature de la relation précoce entre ce petit garçon et sa mère, ainsi que l'absence de son père, étaient à l'origine des difficultés qui conduisirent à ce diagnostic. Il montre que le désir de l'enfant de se saisir de l'occasion ainsi offerte de travailler avec un homme lui permit de comprendre trois éléments essentiels : ses sentiments à l'égard de son père, la raison pour laquelle il lui était tellement difficile de vouloir être avec lui plutôt que de rester avec sa mère, et ce qui faisait qu'il ne pouvait pas se passer de celle-ci.

Die Rolle des Geschlechts des Kindertherapeuten wird nicht oft bezüglich des Behandlungsergebnis in Betracht bezogen. Dieser Artikel diskutiert, wie Aspekte dessen, ein männlicher Kindertherapeut zu sein, die erfolgreiche Behandlung eines sehr kleinen Jungen mit Asperger Syndrom beeinflussten. Der Artikel unterstreicht, wie die Art seiner frühen Beziehung zu seiner Mutter und die Abwesenheit seines Vaters die Grundlage seiner Schwierigkeiten bildeten, die zu dieser Diagnose führten. Es zeigt, dass sein Wunsch, die Gelegenheit zu ergreifen, mit einem Mann zu arbeiten, ihm ermöglichte, seine Gefühle seinem Vater gegenüber zu verstehen, warum es so schwierig war, mit ihm und nicht seiner Mutter sein zu wollen und warum er nicht ohne sie sein konnnte.

Riassunto: Il ruolo che gioca il sesso dello psicoterapeuta infantile non è solitamente considerato in relazione al risultato del trattamento. In questo articolo si discute come il fatto di avere un terapeuta maschile abbia influenzato per certi aspetti il risultato positivo del trattamento di un bambino molto piccolo che soffriva della Sindrome di Asperger. L'articolo illustra come la natura della sua primissima relazione con la madre e l'assenza del padre furono alla base delle sue difficoltà che portarono alla diagnosi. L'articolo mostra come il desiderio del bambino di lavorare con un terapeuta maschile gli ha permesso di capire i suoi sentimenti verso il padre, perché era così difficile voler restare con lui e lo stesso non succedeva con sua madre, e perché non poteva restare senza di lei.