The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy

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Abstract

Purpose

Individuals with sex chromosome aneuploidies (SCAs) are born with an atypical number of X and/or Y chromosomes, and present with a range of medical, developmental, educational, behavioral, and psychological concerns. Rates of SCA diagnoses in infants and children are increasing, and there is a need for specialized interdisciplinary care to address associated risks. The eXtraordinarY Kids Clinic was established to provide comprehensive and experienced care for children and adolescents with SCA, with an interdisciplinary team composed of developmental–behavioral pediatrics, endocrinology, genetic counseling, child psychology, pediatric neuropsychology, speech–language pathology, occupational therapy, nursing, and social work. The clinic model includes an interdisciplinary approach to care, where assessment results by each discipline are integrated to develop unified diagnostic impressions and treatment plans individualized for each patient. Additional objectives of the eXtraordinarY Kids Clinic program include prenatal genetic counseling, research, education, family support, and advocacy.

Methods

Satisfaction surveys were distributed to 496 patients, and responses were received from 168 unique patients.

Results

Satisfaction with the overall clinic visit was ranked as “very satisfied” in 85%, and as “satisfied” in another 9.8%. Results further demonstrate specific benefits from the clinic experience, the importance of a knowledgeable clinic coordinator, and support the need for similar clinics across the country. Three case examples of the interdisciplinary approach to assessment and treatment are included.

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Most cited references 27

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Klinefelter's syndrome.

Fabio Lanfranco, Axel Kamischke, Michael Zitzmann … (2015)

Klinefelter's syndrome is the most common genetic cause of human male infertility, but many cases remain undiagnosed because of substantial variation in clinical presentation and insufficient professional awareness of the syndrome itself. Early recognition and hormonal treatment of the disorder can substantially improve quality of life and prevent serious consequences. Testosterone replacement corrects symptoms of androgen deficiency but has no positive effect on infertility. However, nowadays patients with Klinefelter's syndrome, including the non-mosaic type, need no longer be considered irrevocably infertile, because intracytoplasmic sperm injection offers an opportunity for procreation even when there are no spermatozoa in the ejaculate. In a substantial number of azoospermic patients, spermatozoa can be extracted from testicular biopsy samples, and pregnancies and livebirths have been achieved. The frequency of sex chromosomal hyperploidy and autosomal aneuploidies is higher in spermatozoa from patients with Klinefelter's syndrome than in those from normal men. Thus, chromosomal errors might in some cases be transmitted to the offspring of men with this syndrome. The genetic implications of the fertilisation procedures, including pretransfer or prenatal genetic assessment, must be explained to patients and their partners.

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Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci.

Nikhil Chopra, Matthew P. Hill, George Gemelos … (2012)

This study aims to develop a noninvasive prenatal test on the basis of the analysis of cell-free DNA in maternal blood to detect fetal aneuploidy at chromosomes 13, 18, 21, X, and Y. A total of 166 samples from pregnant women, including 11 trisomy 21, three trisomy 18, two trisomy 13, two 45,X, and two 47,XXY samples, were analyzed using an informatics-based method. Cell-free DNA from maternal blood was isolated, amplified using a multiplex polymerase chain reaction (PCR) assay targeting 11,000 single nucleotide polymorphisms on chromosomes 13, 18, 21, X, and Y in a single reaction, and sequenced. A Bayesian-based maximum likelihood statistical method was applied to determine the chromosomal count of the five chromosomes interrogated in each sample, along with a sample-specific calculated accuracy for each test result. The algorithm correctly reported the chromosome copy number at all five chromosomes in 145 samples that passed a DNA quality test, for a total of 725/725 correct calls. The average calculated accuracy for these samples was 99.92%. Twenty-one samples did not pass the DNA quality test. This informatics-based method noninvasively detected fetuses with trisomy 13, 18, and 21, 45,X, and 47,XXY with high sample-specific calculated accuracies for each individual chromosome and across all five chromosomes. © 2012 John Wiley & Sons, Ltd.

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The metabolic syndrome is frequent in Klinefelter's syndrome and is associated with abdominal obesity and hypogonadism.

Leif Mosekilde, Jan Frystyk, Niels Birkebaek … (2006)

Klinefelter's syndrome is associated with an increased prevalence of diabetes, but the pathogenesis is unknown. Accordingly, the aim of this study was to investigate measures of insulin sensitivity, the metabolic syndrome, and sex hormones in patients with Klinefelter's syndrome and an age-matched control group. RESEARCH DESIGN AN METHODS: In a cross-sectional study, we examined 71 patients with Klinefelter's syndrome, of whom 35 received testosterone treatment, and 71 control subjects. Body composition was evaluated using dual-energy X-ray absorptiometry scans. Fasting blood samples were analyzed for sex hormones, plasma glucose, insulin, C-reactive protein (CRP), and adipocytokines. We analyzed differences between patients with untreated Klinefelter's syndrome and control subjects and subsequently analyzed differences between testosterone-treated and untreated Klinefelter's syndrome patients. Of the patients with Klinefelter's syndrome, 44% had metabolic syndrome (according to National Cholesterol Education Program/Adult Treatment Panel III criteria) compared with 10% of control subjects. Insulin sensitivity (assessed by homeostasis model assessment 2 modeling), androgen, and HDL cholesterol levels were significantly decreased, whereas total fat mass and LDL cholesterol, triglyceride, CRP, leptin, and fructosamine levels were significantly increased in untreated Klinefelter's syndrome patients. In treated Klinefelter's syndrome patients, LDL cholesterol and adiponectin were significantly decreased, whereas no difference in body composition was found in comparison with untreated Klinefelter's syndrome patients. Multivariate analyses showed that truncal fat was the major determinant of metabolic syndrome and insulin sensitivity. The prevalence of metabolic syndrome was greatly increased, whereas insulin sensitivity was decreased in Klinefelter's syndrome. Both correlated with truncal obesity. Hypogonadism in Klinefelter's syndrome may cause an unfavorable change in body composition, primarily through increased truncal fat and decreased muscle mass. Testosterone treatment in Klinefelter's syndrome only partly corrected the unfavorable changes observed in untreated Klinefelter's syndrome, perhaps due to insufficient testosterone doses.

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Author and article information

Journal

Journal ID (nlm-ta): J Multidiscip Healthc

Journal ID (iso-abbrev): J Multidiscip Healthc

Journal ID (publisher-id): Journal of Multidisciplinary Healthcare

Title: Journal of Multidisciplinary Healthcare

Publisher: Dove Medical Press

ISSN (Electronic): 1178-2390

Publication date Collection: 2015

Publication date (Electronic): 17 July 2015

Volume: 8

Pages: 323-334

Affiliations

[1 ]Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA

[2 ]Child Development Unit, Children’s Hospital Colorado, Aurora, CO, USA

Author notes

Correspondence: Nicole Tartaglia, Child Development Unit, Children’s Hospital Colorado, Anschutz Medical Campus, 13123 East 19th Avenue, B140, Aurora, CO 80045, USA, Tel +1 720 777 8087, Fax +1 720 777 7868, Email nicole.tartaglia@ 123456childrenscolorado.org

Article

Publisher ID: jmdh-8-323

DOI: 10.2147/JMDH.S80242

PMC ID: 4514383

PubMed ID: 26229481

SO-VID: 52dd4334-8029-427e-bc85-5f2f3cff7035

License:

The full terms of the License are available at http://creativecommons.org/licenses/by-nc/3.0/. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.

The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy

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Abstract

Purpose

Methods

Results

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Sex hormones and lung development

Most cited references 27

Klinefelter's syndrome.

Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci.

The metabolic syndrome is frequent in Klinefelter's syndrome and is associated with abdominal obesity and hypogonadism.

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