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6 results on '"De Jonge, M.V."'

1. New interview and observation measures of the broader autism phenotype: impressions of interviewee measure

Author

Pickles, A., Parr, J.R., Rutter, M.L., De Jonge, M.V., Wallace, S., Le Couteur, A.S., van Engeland, H., Wittemeyer, K., McConachie, H., Roge, B., Mantoulan, C., Pedersen, L., Isager, T., Poustka, F., Bolte, S., Bolton, P., Weisblatt, E., Green, J., Papanikolaou, K., and Bailey, A.J.

Subjects
Pervasive developmental disorders -- Research -- Care and treatment, Interviewing -- Methods, Discriminant analysis -- Usage, Factor analysis -- Usage, Rating scales -- Analysis, Health
Abstract

A 20 item observational measure of social functioning, the Impression of Interviewee rating scale, is one of three measures devised to assess the broader autism phenotype. The sample studied included families containing at least two individuals with autism spectrum disorder; observations were undertaken by the researcher who interviewed the subject. An exploratory factor analysis suggested a single factor was most appropriate (Cronbach's [alpha] of 0.78). There was a modest but significant retest correlation of 0.42. Correlations between live ratings and blind consensus ratings of vignettes were high (0.93). Correlations with the interview measures were moderate but statistically significant. In conclusion, the observational scale provides a promising start but further work is required before general use can be recommended. Keywords Broader autism phenotype * Observer rating * Test-retest * Factor analysis * Social functioning, Introduction The broader autism phenotype (BAP) primarily comprises socio-communicative features that should be observable in the course of ordinary social interactions. The International Molecular Study of Autism Consortium (IMGSAC) developed [...]

Published
2013
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2. Predictive value of morphological features in patients with autism versus normal controls

Author

Ozgen, H., Hellemann, G.S., de Jonge, M.V., Beemer, F.A., and van Engeland, H.

Subjects
Pervasive developmental disorders -- Diagnosis -- Care and treatment, Morphology -- Analysis, Health
Abstract

We investigated the predictive power of morphological features in 224 autistic patients and 224 matched-pairs controls. To assess the relationship between the morphological features and autism, we used the receiver operator curves (ROC). In addition, we used recursive partitioning (RP) to determine a specific pattern of abnormalities that is characteristic for the difference between autistic children and typically developing controls. The present findings showed that morphological features are significantly increased in patients with autism. Using ROC and RP, some of the morphological measures also led to strong predictive accuracy. Facial asymmetry, multiple hair whorls and prominent forehead significantly differentiated patients with autism from controls. Future research on multivariable risk prediction models may benefit from the use of morphological features. Electronic supplementary material The online version of this article (doi:10.1007/s10803-012-1554-4) contains supplementary material, which is available to authorized users. Keywords Autism * Common variant * Endophenotype * Morphology * Minor anomaly * Predictive value * ROC * Recursive partitioning, Introduction Autism Spectrum Disorder (ASD) represents a set of chronic and severe neurodevelopmental disorders of childhood characterized by qualitative impairments in social interaction and communication skills, accompanied by repetitive and [...]

Published
2013
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3. A new symptom model for autism cross-validated in an independent sampled

Author

Boomsma, A., Van Lang, N.D.J, De Jonge, M.V., De Bildt, A.A., Engleland, H. Van, and Minderaa, R.B.

Subjects
Autism -- Research, Pervasive developmental disorders -- Research, Child development -- Research, Resampling (Statistics), Psychology and mental health
Published
2008

4. The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism

Author

Hadley, D., Wu, Z.L., Kao, C., Kini, A., Mohamed-Hadley, A., Thomas, K., Vazquez, L., Qiu, H., Mentch, F., Pellegrino, R., Kim, C., Connolly, J., Glessner, J., Hakonarson, H., Pinto, D., Merikangas, A., Klei, L., Vorstman, J.A., Thompson, A., Regan, R., Pagnamenta, A.T., Oliveira, B., Magalhaes, T.R., Gilbert, J., Duketis, E., De Jonge, M.V., Cuccaro, M., Correia, C.T., Conroy, J., Conceição, I.C., Chiocchetti, A.G., Casey, J.P., Bolshakova, N., Bacchelli, E., Anney, R., Zwaigenbaum, L., Wittemeyer, K., Wallace, S., Engeland, Hv, Soorya, L., Rogé, B., Roberts, W., Poustka, F., Mouga, S., Minshew, N., McGrew, S.G., Lord, C., Leboyer, M., Le Couteur, A.S., Kolevzon, A., Jacob, S., Guter, S., Green, J., Green, A., Gillberg, C., Fernandez, B.A., Duque, F., Delorme, R., Dawson, G., Café, C., Brennan, S., Bourgeron, T., Bolton, P.F., Bölte, S., Bernier, R., Baird, G., Bailey, A.J., Anagnostou, E., Almeida, J., Wijsman, E.M., Vieland, V.J., Vicente, A.M., Schellenberg, G.D., Pericak-Vance, M., Paterson, A.D., Parr, J.R., Oliveira, G., Correia, C., Nurnberger, J.I., Monaco, A.P., Maestrini, E., Klauck, S.M., Haines, J.L., Geschwind, D.H., Freitag, C.M., Folstein, S.E., Ennis, S., Coon, H., Battaglia, A., Szatmari, P., Sutcliffe, J.S., Hallmayer, J., Gill, M., Cook, E.H., Buxbaum, J.D., Devlin, B., Gallagher, L., Betancur, C., and Scherer, S.W.

Subjects
Autism, Perturbações do Desenvolvimento Infantil e Saúde Mental
Abstract

Although multiple reports show that defective genetic networks underlie the aetiology of autism, few have translated into pharmacotherapeutic opportunities. Since drugs compete with endogenous small molecules for protein binding, many successful drugs target large gene families with multiple drug binding sites. Here we search for defective gene family interaction networks (GFINs) in 6,742 patients with the ASDs relative to 12,544 neurologically normal controls, to find potentially druggable genetic targets. We find significant enrichment of structural defects (P≤2.40E-09, 1.8-fold enrichment) in the metabotropic glutamate receptor (GRM) GFIN, previously observed to impact attention deficit hyperactivity disorder (ADHD) and schizophrenia. Also, the MXD-MYC-MAX network of genes, previously implicated in cancer, is significantly enriched (P≤3.83E-23, 2.5-fold enrichment), as is the calmodulin 1 (CALM1) gene interaction network (P≤4.16E-04, 14.4-fold enrichment), which regulates voltage-independent calcium-activated action potentials at the neuronal synapse. We find that multiple defective gene family interactions underlie autism, presenting new translational opportunities to explore for therapeutic interventions.

Published
2014

5. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

Author

Pinto, D., Delaby, E., Merico, D., Barbosa, M., Merikangas, A., Klei, L, Thiruvahindrapuram, B., Xu, X., Ziman, R., Wang, Z., Vorstman, J.A., Thompson, A., Regan, R., Pilorge, M., Pellecchia, G., Pagnamenta, A.T., Oliveira, B., Marshall, C.R., Magalhães, T.R., Lowe, J.K., Howe, J.L., Griswold, A.J., Gilbert, J., Duketis, E., Dombroski, B.A., De Jonge, M.V., Cuccaro, M., Crawford, E.L., Correia, C.T., Conroy, J., Conceição, I.C, Chiocchetti, A.G., Casey, J.P., Cai, G., Cabrol, C., Bolshakova, N., Bacchelli, E., Anney, R., Gallinger, S., Cotterchio, M., Casey, G., Zwaigenbaum, L., Wittemeyer, K., Wing, K., Wallace, S., van Engeland, H., Tryfon, A., Thomson, S., Soorya, L., Rogé, B., Roberts, W., Poustka, F., Mouga, S., Minshew, N., McInnes, L.A., McGrew, S.G., Lord, C., Leboyer, M., Le Couteur, A.S., Kolevzon, A., Jiménez González, P., Jacob, S., Holt, R., Guter, S., Green, J., Green, A., Gillberg, C., Fernandez, B.A., Duque, F., Delorme, R., Dawson, G., Chaste, P., Café, C., Brennan, S., Bourgeron, T., Bolton, P.F., Bölte, S., Bernier, R., Baird, G., Bailey, A.J., Anagnostou, E., Almeida, J., Wijsman, E.M., Vieland, V.J., Vicente, A.M., Schellenberg, G.D., Pericak-Vance, M., Paterson, A.D., Parr, J.R., Oliveira, G., Nurnberger, J.I., Monaco, A.P., Maestrini, E., Klauck, S.M., Hakonarson, H., Haines, J.L., Geschwind, D.H., Freitag, C.M., Folstein, S.E., Ennis, S., Coon, H., Battaglia, A., Szatmari, P., Sutcliffe, J.S., Hallmayer, J., Gill, M., Cook, E.H., Buxbaum, J.D., Devlin, B., Gallagher, L., and Betancur, C.

Subjects
Autism Spectrum Disorders, Rare copy-number variation, Autism, mental disorders, Perturbações do Desenvolvimento Infantil e Saúde Mental
Abstract

Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7 × 10(-15), ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation.

Published
2014

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