American Journal of Medical Genetics Part C: Seminars in Medical Genetics This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Wolf–Hirschhorn syndrome: A review and update
Since 4p‐ was first described in 1961, significant progress has been made in our understanding of this classic deletion disorder. We have been able to establish a more complete picture of the WHS phenotype associated with distal 4p monosomy, and we are working to delineate the phenotypic effects when each gene on distal 4p is hemizygous. Our aim is to provide genotype‐specific anticipatory guidance and recommendations to families of individuals with a diagnosis of WHS. In addition, establishing the molecular underpinnings of the disorder will potentially suggest targets for molecular treatments. Thus, the next step is ...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - June 1, 2015 Category: Genetics & Stem Cells Authors: Agatino Battaglia, John C. Carey, Sarah T. South Tags: Research Article Source Type: research

Consequences of chromsome18q deletions
Providing clinically relevant prognoses and treatment information for people with a chromsome18q deletion is particularly challenging because every unrelated person has a unique region of hemizygosity. The hemizygous region can involve almost any region of 18q including between 1 and 101 genes (30 Mb of DNA). Most individuals have terminal deletions, but in our cohort of over 350 individuals 23% have interstitial deletions. Because of this heterogeneity, we take a gene by gene approach to understanding the clinical consequences. There are 196 genes on 18q. We classified 133 of them as dosage insensitive, 15 (8%) as dosag...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - June 1, 2015 Category: Genetics & Stem Cells Authors: Jannine D. Cody, Courtney Sebold, Patricia Heard, Erika Carter, Bridgette Soileau, Minire Hasi‐Zogaj, Annice Hill, David Rupert, Brian Perry, Louise O'Donnell, Jon Gelfond, Jack Lancaster, Peter T. Fox, Daniel E. Hale Tags: Research Article Source Type: research

Erratum to Coffin–Siris Syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing—Am J Med Genet Part C 166C: 241–251
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - June 1, 2015 Category: Genetics & Stem Cells Authors: Tomoki Kosho, Noriko Miyake, John C. Carey Tags: Erratum Source Type: research

Down syndrome: Cognitive and behavioral functioning across the lifespan
Individuals with Down syndrome (DS) commonly possess unique neurocognitive and neurobehavioral profiles that emerge within specific developmental periods. These profiles are distinct relative to others with similar intellectual disability (ID) and reflect underlying neuroanatomic findings, providing support for a distinctive phenotypic profile. This review updates what is known about the cognitive and behavioral phenotypes associated with DS across the lifespan. In early childhood, mild deviations from neurotypically developing trajectories emerge. By school‐age, delays become pronounced. Nonverbal skills remain on traje...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - May 18, 2015 Category: Genetics & Stem Cells Authors: Julie Grieco, Margaret Pulsifer, Karen Seligsohn, Brian Skotko, Alison Schwartz Tags: Introduction Source Type: research

Children with Williams syndrome: Developmental trajectories for intellectual abilities, vocabulary abilities, and adaptive behavior
To examine longitudinal trajectories of intellectual abilities, single‐word vocabulary abilities, and adaptive behavior for 76 children with Williams syndrome (WS) aged 4–15 years, we compared their standard scores (SSs) at two time points approximately 3 years apart on the same standardized measures. At the group level, mean SS declined significantly for 8 of the 12 measures and showed a slight (nonsignificant) increase or decrease for 4 measures. However, for most measures significant changes in SS were found for only a small proportion of the children, with some children evidencing significant declines and a smaller...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - May 18, 2015 Category: Genetics & Stem Cells Authors: Carolyn B. Mervis, C. Holley Pitts Tags: Research Article Source Type: research

Contrasting age related changes in autism spectrum disorder phenomenology in Cornelia de Lange, Fragile X, and Cri du Chat syndromes: Results from a 2.5 year follow‐up
In this study we present findings from a two and a half year follow‐up of the characteristics associated with ASD in three syndromes: Cornelia de Lange (CdLS), Fragile X (FXS), and Cri du Chat (CdCS). Parents and carers of 251 individuals (CdLS = 67, CdCS = 42, and FXS = 142) completed the Social Communication Questionnaire (SCQ) at Time 1 (T1) and again two and a half years later (T2). The FXS and CdLS groups were more likely to meet the cut‐offs for both autism and ASD and show greater severity of ASD related behaviors, at both T1 and T2, compared to the CdCS group. Older individuals (>15yrs) with CdLS...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - May 18, 2015 Category: Genetics & Stem Cells Authors: Lisa Cochran, Joanna Moss, Lisa Nelson, Chris Oliver Tags: Research Article Source Type: research

Developmental trajectories in cognitive‐behavioral phenotypes: Introduction
Developmental trajectories in behavioral phenotypes are important areas for systematic research and have been for more than 30 years. They interweave several important strands related to human growth: that of individuals born with some form of intellectual impairment or disability (ID); second, the genetics associated with intellectual ability and disability; and third, at the behavioral level, the dynamic expression and variability of specific abnormalities as individuals age. ID, and the genetic disorders that produce ID, were often not well‐received by earlier societies. While the inheritance of behavior and intellect...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - May 10, 2015 Category: Genetics & Stem Cells Authors: Gene S. Fisch Tags: Introduction Source Type: research

The role of narrative medicine in the management of joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type
Joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type (JHS/EDS‐HT) is a hereditary connective tissue disorder affecting every bodily system. It is largely underdiagnosed by many practitioners, with the result of a considerable delay in diagnosis and, consequently, in the onset of adequate management schedule and treatment. Patients may also experience to be misbelieved, erroneously considered affected by a psychiatric or psychosomatic disorders, and rejected by the medical profession, which can lead to feelings of anger and resentment. Patient journeys are often long and complicated, but if doctors all...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 26, 2015 Category: Genetics & Stem Cells Authors: Isobel Knight Tags: Research Article Source Type: research

Phenotypic variability in developmental coordination disorder: Clustering of generalized joint hypermobility with attention deficit/hyperactivity disorder, atypical swallowing and narrative difficulties
This study confirms the non‐causal association between DCD and gJHM, which, in turn, seems to increase the risk for non‐random additional features. The excess of language, learning, and swallowing difficulties in patients with DCD and gJHM suggests a wider effect of lax tissues in the development of the nervous system. © 2015 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 26, 2015 Category: Genetics & Stem Cells Authors: Claudia Celletti, Giorgia Mari, Giulia Ghibellini, Mauro Celli, Marco Castori, Filippo Camerota Tags: Research Article Source Type: research

Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers–Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised
Psychological distress is a known feature of generalized joint hypermobility (gJHM), as well as of its most common syndromic presentation, namely Ehlers–Danlos syndrome, hypermobility type (a.k.a. joint hypermobility syndrome — JHS/EDS‐HT), and significantly contributes to the quality of life of affected individuals. Most published articles dealt with the link between gJHM (or JHS/EDS‐HT) and anxiety‐related conditions, and a novel generation of studies is emerging aimed at investigating the psychopathologic background of such an association. In this paper, literature review was carried out with a semi‐systemat...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 26, 2015 Category: Genetics & Stem Cells Authors: Lorenzo Sinibaldi, Gianluca Ursini, Marco Castori Tags: Research Article Source Type: research

Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type among flemish physiotherapists
In conclusion, this study in Flemish physiotherapists confirms that JHS/EDS‐HT is under‐recognized, not well known and deemed difficult to treat. Further education is required and sought by the physiotherapists surveyed, and future research is needed. © 2015 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 26, 2015 Category: Genetics & Stem Cells Authors: Lies Rombaut, Janet Deane, Jane Simmonds, Inge De Wandele, Anne De Paepe, Fransiska Malfait, Patrick Calders Tags: Research Article Source Type: research

Gastrointestinal and nutritional issues in joint hypermobility syndrome/ehlers–danlos syndrome, hypermobility type
Gastrointestinal involvement is a well known complication of Ehlers–Danlos syndromes (EDSs), mainly in form of abdominal emergencies due to intestinal/abdominal vessels rupture in vascular EDS. In the last decade, a growing number of works investigated the relationship between a wide spectrum of chronic gastrointestinal complaints and various EDS forms, among which the hypermobility type (a.k.a. joint hypermobility syndrome; JHS/EDS‐HT) was the most studied. The emerging findings depict a major role for gastrointestinal involvement in the health status and, consequently, management of JHS/EDS‐HT patients. Nevertheles...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 26, 2015 Category: Genetics & Stem Cells Authors: Marco Castori, Silvia Morlino, Giulia Pascolini, Carlo Blundo, Paola Grammatico Tags: Research Article Source Type: research

The neuromuscular differential diagnosis of joint hypermobility
Joint hypermobility is the defining feature of various inherited connective tissue disorders such as Marfan syndrome and various types of Ehlers–Danlos syndrome and these will generally be the first conditions to be considered by geneticists and pediatricians in the differential diagnosis of a patient presenting with such findings. However, several congenital and adult‐onset inherited myopathies also present with joint hypermobility in the context of often only mild‐to‐moderate muscle weakness and should, therefore, be included in the differential diagnosis of joint hypermobility. In fact, on the molecular level di...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 26, 2015 Category: Genetics & Stem Cells Authors: S. Donkervoort, C.G. Bonnemann, B. Loeys, H. Jungbluth, N.C. Voermans Tags: Research Article Source Type: research

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers‐danlos syndrome hypermobility type compared to other heritable connective tissue disorders
Joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type (JHS/EDS‐HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. JHS/EDS‐HT also presents with other connective tissue features affecting a variety of structures and organs, such as skin, eye, bone, and internal organs. However, most of these signs are present in variable combinations and severity in many other heritable connective tissue disorders. Accordingly, JHS/EDS‐HT is an “exclusion” diagnosis which needs the absence of any consistent feature indicative of oth...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 26, 2015 Category: Genetics & Stem Cells Authors: Marina Colombi, Chiara Dordoni, Nicola Chiarelli, Marco Ritelli Tags: Research Article Source Type: research

Generalized joint hypermobility, joint hypermobility syndrome and Ehlers‐Danlos syndrome, hypermobility type
This issue of the American Journal of Medical Genetics Seminar Series Part C is dedicated to generalized joint hypermobility (gJHM), joint hypermobility syndrome (JHS), and Ehlers–Danlos syndrome, hypermobility type (EDS‐HT). gJHM is the best known clinical manifestation of inherited defects of the connective tissue. On the other side, JHS and EDS‐HT are actually considered one and the same from a clinical perspective by most practitioners and researchers (i.e., JHS/EDS‐HT), and their molecular basis remains unknown. For decades, “non‐syndromic” gJHM and JHS/EDS‐HT have been thought to be simple clinical cu...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 26, 2015 Category: Genetics & Stem Cells Authors: Marco Castori, Marina Colombi Tags: Introduction Source Type: research