Top

Optie A:

Klik op de rechtermuisknop op de link en selecteer de optie “linkadres kopiëren”
Optie B:

Deel de link per e-mail
Link delen

vorige artikel Brief Report: Visual Perception, Task-Induced P...

volgende artikel A Protocol for Sedation Free MRI and PET Imagin...

Tip

Swipe om te navigeren naar een ander artikel

09-04-2019 | Letter to the Editor | Uitgave 7/2019

Autism Spectrum Disorder and Psychiatric Comorbidity in a Patient with Myhre Syndrome

Tijdschrift:: Journal of Autism and Developmental Disorders > Uitgave 7/2019

Auteurs:: Pehlivanidis Artemios, Spyropoulou Areti, Papanikolaou Katerina, Fryssira Helen, Tsoytsoy Eirini, Papageorgiou Charalambos

» Toegang tot de volledige tekst krijgen

Belangrijke opmerkingen

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Abstract

Myhre syndrome (MS) is a connective tissue disorder with multisystem involvement with or without intellectual disability. In most cases SMAD4 mutations are reported. To date, 55 individuals have been molecularly confirmed. Autism has been proposed among associate clinical features of MS but no standardized diagnosis was available in previous cases. We report a case of a 25-year-old man with a pathogenic heterozygous SMAD4 missense mutation affecting residue Arg⁴⁹⁶ (SMAD4:p.Arg496Cys). Clinical findings are consistent with MS, commorbid with affective disorder and High Functioning Autism Spectrum Disorder confirmed by a standardized assessment procedure. The thorough clinical assessment of cases with syndromes such as MS can extend our knowledge on both the phenotypic characteristics of the syndrome and the genetic basis of autism.

Log in om toegang te krijgen

Hier inloggen

Met onderstaand(e) abonnement(en) heeft u direct toegang:

BSL Psychologie Totaal

Met BSL Psychologie Totaal blijf je als professional steeds op de hoogte van de nieuwste ontwikkelingen binnen jouw vak. Met het online abonnement heb je toegang tot een groot aantal boeken, protocollen, vaktijdschriften en e-learnings op het gebied van psychologie en psychiatrie. Zo kun je op je gemak en wanneer het jou het beste uitkomt verdiepen in jouw vakgebied.

Meer informatie

American Psychiatric Association (APA). (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Arlington, VA: APA. CrossRef

Burglen, L., Héron, D., Moerman, A., Dieux-Coeslier, A., Bourguignon, J.-P., Bachy, A., et al. (2003). Myhre syndrome: new reports, review, and differential diagnosis. Journal of Medical Genetics, 40, 546–551. CrossRefPubMedPubMedCentral

Caputo, V., Bocchinfuso, G., Castori, M., Traversa, A., Pizzuti, A., Stella, L., et al. (2014). Novel SMAD4 mutation causing Myhre syndrome. American Journal of Medical Genetics, 164A, 1835–1840. CrossRefPubMed

Caputo, V., Cianetti, L., Niceta, M., Carta, C., Ciolfi, A., Bocchinfuso, G., et al. (2012). A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. American Journal of Human Genetics, 90, 161–169. CrossRefPubMedPubMedCentral

Geisheker, R. M., Heymann, G., Wang, T., Coe, B. P., TurneT, N., HollyA, F., et al. (2017). Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains. Nature Neuroscience, 20(8), 1043–1051. CrossRefPubMedPubMedCentral

Le Couteur, A., Lord, C., & Rutter, M. (2003). The autism diagnostic interview—revised (ADI-R). Los Angeles, CA: Western Psychological Services.

Le Goff, C., Mahaut, C., Abhyankar, A., Le Goff, W., Serre, V., Afenjar, A., et al. (2012). Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nature Genetics, 44, 85–88. CrossRef

Lelieveld, S. H., Wiel, L., Venselaar, H., Pfundt, R., Vriend, G., Veltman, J. A., et al. (2017). Spatial clustering of de Novo Missense mutations identifies candidate neurodevelopmental disorder-associated genes. American Journal of Human Genetics, 101(3), 478–487. CrossRefPubMedPubMedCentral

Lin, E., Michot, A. C., Cormier-Daire, V., L’Ecuyer, T. J., MatherneG, P., BarnesH, B., et al. (2016). Gain of function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. American Journal of Medical Genetics, 170A, 2617–2631. CrossRef

Lord, C., Rutter, M., DiLavore, P. C., Risi, S., Gotham, K., Bishop, S. L., et al. (2012). Autism diagnostic observation schedule (2nd ed.). Torrance, CA: Western Psychological Services.

Michot, C., Le Goff, C., Mahaut, C., Afenjar, A., Brooks, A., Campeau, M. P., et al. (2014). Myhre and LAPS syndromes: clinical and molecular review of 32 patients. European Journal of Human Genetics, 22, 1272–1277. CrossRefPubMedPubMedCentral

Millat, G., Bouvagnet, P., Chevalier, P., Sebbag, L., Dulac, A., Dauphin, C., et al. (2011). Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. European Journal of Medical Genetics, 54(6), e570–e575. CrossRefPubMed

Moss, P., Howlin, P., Savage, S., Bolton, P., & Rutter, M. (2015). Self and informant reports of mental health difficulties among adults with autism findings from a long-term follow-up study. Autism., 19(7), 832–841. CrossRefPubMed

Myhre, S. A., RuvalcabaR, H., & Graham, C. B. (1981). A new growth deficiency syndrome. Clinical Genetics, 20, 1–5. CrossRefPubMed

Niemi, E. M., Martin, C. H., Rice, L. D., Gallone, G., Gordon, S., Kelemen, M., et al. (2018). Common genetic variants contribute to risk of rare severe neurodevelopmental disorders. Nature, 562(7726), 268–271. CrossRefPubMed

Papanikolaou, K., Paliokosta, E., Houliaras, G., Vgenopoulou, S., Giouroukou, E., Pehlivanidis, A., et al. (2009). Using the autism diagnostic interview: Revised and the autism diagnostic observation schedule-generic for the diagnosis of autism spectrum disorders in a Greek sample with a wide range of intellectual abilities. Journal of Autism and Developmental Disorders, 39(4), 414–420. CrossRefPubMed

Piccolo, P., Mithbaokar, P., Sabatino, V., Tolmie, J., Melis, D., Schiaffino, M. C., et al. (2014). SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan. European Journal of Human Genetics, 22, 988–994. CrossRefPubMedPubMedCentral

Starr, L. J., Lindor, N. M., & Lin, A. E. (2017). Myhre syndrome. Seattle: University of Washington.

Titomanlio, L., Marzano, M. G., Rossi, E., D’Armiento, M., De Brasi, D., Vega, G. R., et al. (2001). Case of Myhre syndrome with autism and peculiar skin histological findings. American Journal of Human Genetics, 103, 163–165.

Watkins, H., McKenna, W. J., Thierfelder, L., Suk, H. J., Anan, R., O’Donoghue, A., et al. (1995). Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. New England Journal of Medicine, 332(16), 1058–1064. CrossRefPubMed

Titel: Autism Spectrum Disorder and Psychiatric Comorbidity in a Patient with Myhre Syndrome
Auteurs:: Pehlivanidis Artemios
Spyropoulou Areti
Papanikolaou Katerina
Fryssira Helen
Tsoytsoy Eirini
Papageorgiou Charalambos
Publicatiedatum: 09-04-2019
DOI: https://doi.org/10.1007/s10803-019-04015-y
Uitgeverij: Springer US
Tijdschrift: Journal of Autism and Developmental Disorders
Uitgave 7/2019
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432

Bohn Stafleu van Loghum

Deel dit onderdeel of sectie (kopieer de link)

Tip

Swipe om te navigeren naar een ander artikel

Autism Spectrum Disorder and Psychiatric Comorbidity in a Patient with Myhre Syndrome

Publisher's Note

Abstract

Log in om toegang te krijgen

Met onderstaand(e) abonnement(en) heeft u direct toegang:

BSL Psychologie Totaal

Bohn Stafleu van Loghum

Deel dit onderdeel of sectie (kopieer de link)

Tip

Swipe om te navigeren naar een ander artikel

Publisher's Note

Abstract

Log in om toegang te krijgen

Met onderstaand(e) abonnement(en) heeft u direct toegang:

BSL Psychologie Totaal

Andere artikelen Uitgave 7/2019

Brief Report: Visual Perception, Task-Induced Pupil Response Trajectories and ASD Features in Children

Correction to: Externalizing and Internalizing Symptoms Moderate Longitudinal Patterns of Facial Emotion Recognition in Autism Spectrum Disorder

More than Leisure: Organized Activity Participation and Socio-Emotional Adjustment Among Adolescents with Autism Spectrum Disorder

Collateral Effects of Youth Disruptive Behavior Disorders on Mothers’ Psychological Distress: Adolescents with Autism Spectrum Disorder, Intellectual Disability, or Typical Development

A Protocol for Sedation Free MRI and PET Imaging in Adults with Autism Spectrum Disorder

The Economic Costs of Autism Spectrum Disorder: A Literature Review