RESUMEN
Biallelic pathogenic variants in MAP3K20, which encodes a mitogen-activated protein kinase, are a rare cause of split-hand foot malformation (SHFM), hearing loss, and nail abnormalities or congenital myopathy. However, heterozygous variants in this gene have not been definitively associated with a phenotype. Here, we describe the phenotypic spectrum associated with heterozygous de novo variants in the linker region between the kinase domain and leucine zipper domain of MAP3K20. We report five individuals with diverse clinical features, including craniosynostosis, limb anomalies, sensorineural hearing loss, and ectodermal dysplasia-like phenotypes who have heterozygous de novo variants in this specific region of the gene. These individuals exhibit both shared and unique clinical manifestations, highlighting the complexity and variability of the disorder. We propose that the involvement of MAP3K20 in endothelial-mesenchymal transition provides a plausible etiology of these features. Together, these findings characterize a disorder that both expands the phenotypic spectrum associated with MAP3K20 and highlights the need for further studies on its role in early human development.
Asunto(s)
Craneosinostosis , Displasia Ectodérmica , Pérdida Auditiva Sensorineural , Heterocigoto , Humanos , Displasia Ectodérmica/genética , Displasia Ectodérmica/patología , Pérdida Auditiva Sensorineural/genética , Pérdida Auditiva Sensorineural/patología , Masculino , Femenino , Craneosinostosis/genética , Fenotipo , Preescolar , Deformidades Congénitas de las Extremidades/genética , Niño , Mutación , Lactante , Quinasas Quinasa Quinasa PAM/genéticaRESUMEN
The American Academy of Pediatrics, the American College of Medical Genetics and Genomics, and the American Academy of Neurology recommend genetic testing, as a genetic evaluation tool, for children diagnosed with autism spectrum disorders (ASD). Despite the potential benefits, the utilization of genetic testing is low. We proposed an integrated theoretical framework to examine parents' intention and associated psychosocial factors in pursuing genetic testing for their children with ASD. Recruiting primarily from the Interactive Autism Network, a nationwide sample of 411 parents of children with ASD who had never pursued genetic testing for their children completed our theory-based online survey. Data were analyzed using structural equation modeling. About half of the parents were willing to pursue genetic testing for their children with ASD. Findings of the structural equation modeling suggested a good model fit between our integrated theoretical framework and survey data. Parents' intention was significantly and positively associated with their attitudes toward genetic testing, subjective norm, and self-efficacy in having their children tested. This study serves as an initial window to understand parental intention to pursue genetic testing for their children with ASD. Our findings can help physicians and genetic counselors understand, educate, counsel, and support parents' decision-making about having their children with ASD genetically tested. Furthermore, our study can also assist physicians and genetic counselors in developing theory- and evidence-based patient education materials to enhance genetic testing knowledge among parents of children with ASD.
Asunto(s)
Trastorno del Espectro Autista , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/genética , Niño , Pruebas Genéticas , Conocimientos, Actitudes y Práctica en Salud , Humanos , Padres , Encuestas y CuestionariosRESUMEN
A genetic evaluation may lead to a clinical or molecular diagnosis, which helps clarify prognosis, tailor surveillance protocols based on risks associated with the genetic condition, and aid in assessment of risk to family members. However, individuals of low socioeconomic and/or minority status often have limited access to genetics services, which contributes to healthcare disparities (Journal of Community Genetics, 2018, 9, 233). Our county hospital system, dedicated to providing health care to the underserved, offers a unique opportunity to reduce healthcare inequalities in genetics. This retrospective chart review included 2,304 patients evaluated at an outpatient county hospital genetics clinic between January 1, 2013, and December 31, 2018, during which time genetic testing was recommended for most patients (58.5%) for a total of 1,429 recommended genetic tests. Most tests were obtained through non-hospital financial resources (56.5%), and loss to follow-up during the phlebotomy stage was the most common reason for tests not to be ordered (41.9%) and not to be completed (36.4%). The experience in our clinic suggests that identifying financial avenues, such as commercial laboratory financial assistance programs in addition to county hospital funds, can support obtaining genetic testing and allow healthcare providers to overcome financial barriers to genetic testing.
Asunto(s)
Instituciones de Atención Ambulatoria/economía , Financiación Personal , Pruebas Genéticas/economía , Femenino , Disparidades en Atención de Salud , Humanos , Estudios RetrospectivosRESUMEN
PURPOSE: Genomics services have the potential to reduce incidence and mortality of diseases by providing individualized, family health history (FHH)-based prevention strategies to clients. These services may benefit from the involvement of community health workers (CHWs) in the provision of FHH-based genomics education and services, as CHWs are frontline public health workers and lay health educators, who share similar ethnicities, languages, socioeconomic statuses, and life experiences with the communities they serve. We developed, implemented, and evaluated the FHH-based genomics training program for CHWs. METHODS: This theory- and evidence-based FHH-focused genomics curriculum was developed by an interdisciplinary team. Full-day workshops in English and Spanish were delivered to 145 Texas CHWs (91.6% were Hispanic/black). Preworkshop, postworkshop, and 3-month follow-up data were collected. RESULTS: CHWs significantly improved their attitudes, intention, self-efficacy, and knowledge regarding adopting FHH-based genomics into their practice after the workshops. At 3-month follow-up, these scores remained higher, and there was a significant increase in CHWs' genomics practices. CONCLUSION: This FHH-based genomics training successfully educated Texas CHWs, and the outcomes were promising. Dissemination of training to CHWs in and outside of Texas is needed to promote better access to and delivery of personalized genomics services for the lay and underserved communities.
Asunto(s)
Agentes Comunitarios de Salud/educación , Educación/métodos , Educadores en Salud/educación , Adulto , Curriculum , Femenino , Genómica/educación , Conocimientos, Actitudes y Práctica en Salud , Humanos , Masculino , TexasRESUMEN
Focal dermal hypoplasia is an X-linked dominant disorder characterized by patchy hypoplastic skin and digital, ocular and dental malformations. We used array comparative genomic hybridization to identify a 219-kb deletion in Xp11.23 in two affected females. We sequenced genes in this region and found heterozygous and mosaic mutations in PORCN in other affected females and males, respectively. PORCN encodes the human homolog of Drosophila melanogaster porcupine, an endoplasmic reticulum protein involved in secretion of Wnt proteins.
Asunto(s)
Cromosomas Humanos X/genética , Hipoplasia Dérmica Focal/genética , Genes Ligados a X/genética , Proteínas de la Membrana/genética , Eliminación de Secuencia , Transducción de Señal/genética , Proteínas Wnt/fisiología , Aciltransferasas , Secuencia de Bases , Femenino , Humanos , Masculino , Mutación PuntualRESUMEN
Conradi-Hünermann-Happle syndrome, or X-linked dominant chondrodysplasia punctata type 2 (CDPX2), is a genodermatosis caused by mutations in EBP. While typically lethal in males, females with CDPX2 generally manifest by infancy or childhood with variable features including congenital ichthyosiform erythroderma, chondrodysplasia punctata, asymmetric shortening of the long bones, and cataracts. We present a 36-year-old female with short stature, rhizomelic and asymmetric limb shortening, severe scoliosis, a sectorial cataract, and no family history of CDPX2. Whole exome sequencing (WES) revealed a p.Arg63del mutation in EBP, and biochemical studies confirmed a diagnosis of CDPX2. Short stature in combination with ichthyosis or alopecia, cataracts, and limb shortening in an adult should prompt consideration of a diagnosis of CDPX2. As in many genetic syndromes, the hallmark features of CDPX2 in pediatric patients are not readily identifiable in adults. This demonstrates the utility of WES as a diagnostic tool in the evaluation of adults with genetic disorders.
Asunto(s)
Alopecia/genética , Secuencia de Bases , Catarata/genética , Condrodisplasia Punctata/genética , Enanismo/genética , Eliminación de Secuencia , Esteroide Isomerasas/genética , Adulto , Negro o Afroamericano , Alopecia/diagnóstico , Alopecia/patología , Catarata/diagnóstico , Catarata/patología , Condrodisplasia Punctata/diagnóstico , Condrodisplasia Punctata/patología , Enanismo/diagnóstico , Enanismo/patología , Exoma , Femenino , Genes Ligados a X , Humanos , Datos de Secuencia Molecular , Esteroide Isomerasas/deficienciaRESUMEN
Interstitial deletions involving 2q24 have been associated with a wide range of phenotypes including intellectual disability and short stature. To date, the smallest common region among reported cases of deletions in this region is approximately 2.65 Mb and contains 15 genes. In the present case report, we describe an 18-year-old male with mild intellectual disability, short stature, and mosaicism for a 0.422 Mb deletion on 2q24.2 that was diagnosed by comparative genomic hybridization and confirmed with fluorescent in situ hybridization (FISH). This deletion, which is present in approximately 61% of cells, includes three genes: TBR1, TANK, and PSMD14. The findings suggest that the critical region for intellectual disability and short stature in 2q24.2 can be narrowed to a 0.422 Mb segment. TBR1, a transcription factor involved in early cortical development, is a strong candidate for the intellectual disability phenotype seen in our patient and in patients with larger deletions in this region of the genome.
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Proteínas Adaptadoras Transductoras de Señales/genética , Deleción Cromosómica , Mosaicismo , Complejo de la Endopetidasa Proteasomal/genética , Proteínas de Dominio T Box/genética , Transactivadores/genética , Adolescente , Cromosomas Humanos Par 2 , Hibridación Genómica Comparativa , Enanismo/genética , Estudios de Asociación Genética , Humanos , Hibridación Fluorescente in Situ , Discapacidad Intelectual/genética , Masculino , FenotipoRESUMEN
The purpose of our study is to familiarize the reader with genetic disorders commonly seen in adults and identify challenges and barriers that limit provision of services. We conducted a retrospective chart analysis of patients seen in the adult Genetics clinics from January 2004 to December 2010 in a metropolitan medical center consisting of an academic private clinic and a county hospital clinic. During the study period, a total of 1,552 patients (n = 1,108 private clinic patients; n = 444 county clinic patients) were evaluated and managed. Of these, 790 and 280 were new patient visits at the private clinic and county clinic, respectively. Approximately 35% (374/1,070) of new patients were seen for cancer-related indications, while neurological indications accounted for approximately 14% (153/1,070) in both clinics. Cardiology-related indications accounted for approximately 13% (145/1,070) of patients, followed closely by chromosomal and syndromic indications for which almost 9% (96/1,070) of new patients were seen. Approximately 8% (90/1,070) of new patients were seen for musculoskeletal indications. We saw increased clinic growth during the study period and found that the most common indications for referral are: (1) Personal/family history of cancer (2) neurological (3) cardiovascular (CV) (4) chromosomal/syndromic and (5) musculoskeletal. A number of challenges were identified, including coordination of services, feasibility of testing, and an overall higher complexity of care with increased clinic scheduling time requirements. Through this review, we demonstrate the demand for adult genetics services and propose some guidelines to address the challenges of management in the adult genetics patient population.
Asunto(s)
Pruebas Genéticas , Necesidades y Demandas de Servicios de Salud , Adulto , Asesoramiento Genético , Genómica , Humanos , Derivación y Consulta/estadística & datos numéricosRESUMEN
Due to the increased prevalence of Autism Spectrum Disorder (ASD), more children with ASD may be referred for genetic testing. It is important to develop a tool to help parents consider the benefits and drawbacks of genetic testing for ASD before pursuing genetic testing for children with ASD. We developed the first theory-based survey-Perceptions of ASD Genetic Testing Survey (POAGTS), as a tool to assist healthcare providers to better understand parents' perceptions and concerns regarding ASD genetic testing. The psychometric properties of POAGTS were first pre-tested and then formally tested with 308 parents of children with ASD who had not decided whether to pursue genetic testing for their children diagnosed with ASD. Findings suggest that the eight scales of the POAGTS were psychometrically sound, and had acceptable data reliability and validity. Additional research with various samples, such as parents of children with ASD who belong to diverse racial/ethnic and socioeconomic groups, is warranted in the future to determine whether the POAGTS is applicable to these particular groups. Condensing and refining this tool to a shorter, more user-friendly version is also recommended for future research.
Asunto(s)
Trastorno del Espectro Autista , Trastorno del Espectro Autista/genética , Niño , Pruebas Genéticas , Humanos , Percepción , Psicometría , Reproducibilidad de los ResultadosRESUMEN
Background: Health educators (HEs), who are specialized in health education, can provide basic genomics education/services to the public. Such practice of HEs is unknown. We examined HEs' genomics knowledge and practice, intention, attitudes, self-efficacy and perceived barriers in providing basic genomics education/services. Materials & methods: Texas HEs (n = 662) were invited to complete the survey that was developed based on theoretical constructs (i.e., practice/behavior, intention, attitudes, self-efficacy, knowledge and perceived barriers) from various health behavior theories. Results: Among 182 HEs completed the survey, most had never/seldom provided basic genomics education/services. Participants' practice was positively associated with their intention in performing basic genomics education/services and previous genomics training. Intention to offer such education/services was positively related to HEs' self-efficacy and attitudes, which were correlated to previous genomics training. Conclusion: Texas HEs lacked basic genomics education/services practice. As previous genomics training was associated with HEs' practice, providing continuing education may enhance their practice.
Asunto(s)
Genómica/educación , Educadores en Salud/organización & administración , Educación del Paciente como Asunto/organización & administración , Adulto , Femenino , Educadores en Salud/psicología , Conocimientos, Actitudes y Práctica en Salud , Humanos , Masculino , Persona de Mediana Edad , Autoeficacia , Factores Socioeconómicos , TexasRESUMEN
Cancer is the second leading cause of death in the U.S. Utilizing family health history in cancer prevention holds promise in lessening the burden of cancer. Nevertheless, family health history is underutilized in public health and preventive medicine. Community health workers, also known as lay health educators, are ideal candidates to offer basic cancer family history-based education and services to the general public. The authors developed the first cancer family history-based genomics training program in cancer prevention tailored for community health workers. This paper details the development and pilot testing findings of the training. Specifically, a multidisciplinary research team of geneticists, genetic counselors, health educators, community health workers, and community health worker instructors developed a 7-module, 6-hour, bilingual (English and Spanish) cancer family history-based training focusing on cancer family history-based risk assessment, lifestyle recommendations, and genetic evaluation and testing. The curriculum was based on an integrated theoretical framework, the National Comprehensive Cancer Network guidelines, the community health worker core competencies, and the 4MAT instructional model. The Texas Department of State Health Services approved and certified the curriculum with 2 delivery formats: in-person/face-to-face workshops and online training. A total of 34 community health workers completed the pilot training in person (n=17) and online (n=17) in 2018 and 2019. Participating community health workers' knowledge, attitudes, self-efficacy, and intention in delivering basic cancer family history-based genomics education and services significantly increased on the immediate post-test measures compared with their pretest data. Positive ratings and feedback were also reported by the community health workers. Findings from this pilot study suggest that wider training is warranted for educating more community health workers in the U.S.
Asunto(s)
Agentes Comunitarios de Salud , Neoplasias , Genómica , Humanos , Anamnesis , Neoplasias/genética , Neoplasias/prevención & control , Proyectos Piloto , TexasRESUMEN
Most females have random X-chromosome inactivation (XCI), defined as an equal likelihood for inactivation of the maternally- or paternally-derived X chromosome in each cell. Several X-linked disorders have been associated with a higher prevalence of non-random XCI patterns, but previous studies on XCI patterns in Aicardi syndrome were limited by small numbers and older methodologies, and have yielded conflicting results. We studied XCI patterns in DNA extracted from peripheral blood leukocytes of 35 girls with typical Aicardi syndrome (AIC) from 0.25 to 16.42 years of age, using the human androgen receptor assay. Data on 33 informative samples showed non-random XCI in 11 (33%), defined as a >80:20% skewed ratio of one versus the other X chromosome being active. In six (18%) of these, there was a >95:5% extremely skewed ratio of one versus the other X chromosome being active. XCI patterns on maternal samples were not excessively skewed. The prevalence of non-random XCI in Aicardi syndrome is significantly different from that in the general population (p < 0.0001) and provides additional support for the hypothesis that Aicardi syndrome is an X-linked disorder. We also investigated the correlation between X-inactivation patterns and clinical severity and found that non-random XCI is associated with a high neurological composite severity score. Conversely, a statistically significant association was found between random XCI and the skeletal composite score. Correlations between X-inactivation patterns and individual features were made and we found a significant association between vertebral anomalies and random XCI.
Asunto(s)
Enfermedades Genéticas Ligadas al Cromosoma X/genética , Malformaciones del Sistema Nervioso/genética , Fenotipo , Inactivación del Cromosoma X/genética , Adolescente , Niño , Preescolar , Femenino , Enfermedades Genéticas Ligadas al Cromosoma X/patología , Humanos , Lactante , Malformaciones del Sistema Nervioso/patología , Receptores Androgénicos/genética , SíndromeRESUMEN
Aicardi syndrome is a severe neurodevelopmental disorder that affects females or rarely males with a 47,XXY karyotype. Therefore, it is thought to be caused by heterozygous defects in an essential X-linked gene or by defects in an autosomal gene with sex-limited expression. Because all reported cases are sporadic with one exception, traditional linkage analysis to identify the mutant gene is not possible, and the de novo mutation rate must be high. As an alternative approach to localize the mutant gene, we screened the DNA of 38 girls with Aicardi syndrome by high-resolution, genome-wide array comparative genomic hybridization for copy number gains and losses. We found 110 copy number variants (CNVs), 97 of which are known, presumably polymorphic, CNVs; 8 have been seen before in unrelated studies in unaffected individuals. Four previously unseen CNVs on autosomes were each inherited from a healthy parent. One subject with Aicardi syndrome had a de novo loss of X-linked copy number in a region without known genes. Detailed analysis of this and flanking regions did not reveal CNVs or mutations in annotated genes in other affected subjects. We conclude that, in this study population of 38 subjects, Aicardi syndrome is not caused by CNVs detectable with the high-resolution array platform that was used.
Asunto(s)
Variaciones en el Número de Copia de ADN , Discapacidades del Desarrollo/genética , Aberraciones Cromosómicas Sexuales , Anomalías Múltiples/genética , Niño , Análisis Mutacional de ADN , Exones , Femenino , Dosificación de Gen/genética , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Estudio de Asociación del Genoma Completo , Humanos , Patrón de Herencia/genética , Masculino , Trastornos de los Cromosomas Sexuales/genética , SíndromeRESUMEN
Even in well-described genetic syndromes, such as neurofibromatosis type 1, expansion of the phenotype should be considered as a possible explanation for atypical presentations. However, it is critical to complete the evaluation for a potential dual diagnosis, as there could be significant prognostic and management implications.
RESUMEN
This study examined the experiences of Autism Spectrum Disorder (ASD) genetic testing among parents of children with ASD. A nationwide sample of 552 parents of children with ASD completed an online survey. Nearly one-quarter (22.5%) of the parents reported that their affected children had undergone ASD genetic testing. The testing utilization was associated with awareness of ASD genetic testing and whether information was received from healthcare providers. Among parents whose children with ASD were tested, 37.6% had negative experiences, which mainly due to lack of perceived testing benefits to their affected children and unpleasant testing experiences with healthcare providers. To provide better healthcare services, it is critical to ensure parents understand the purposes, benefits, and results of ASD genetic testing.
Asunto(s)
Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/genética , Pruebas Genéticas/métodos , Padres , Encuestas y Cuestionarios , Adulto , Trastorno del Espectro Autista/diagnóstico , Concienciación , Niño , Preescolar , Femenino , Pruebas Genéticas/tendencias , Humanos , Masculino , Persona de Mediana Edad , Padres/psicología , Estados Unidos/epidemiologíaRESUMEN
Understanding parents' educational needs concerning genetic testing for their children with autism spectrum disorder (ASD) is important in developing tailored, evidence-based health education materials for clinical use. Since research is lacking in this area, to bridge the gap, we examined genetic testing education needs using a nationwide sample of parents of biological children with ASD in the United States. Prospective participants were recruited from the interactive autism network, and 552 parents of biological children with ASD completed the online survey. Most participants (73.7%) were interested in receiving health education about genetic testing. Yet, the majority of them (64.7%) reported that they did not receive the information needed from physicians. Parents who identified as racial/ethnic minorities (P = 0.029), who had an education degree below college (P = 0.002), or displayed low/no awareness of genetic testing (P = 0.003) were more interested in receiving health education regarding genetic testing. Parents' most desired topics for health education include the accuracy of genetic testing (88.4%), cost (85.9%), relevant benefits of such testing (83.8%), testing procedure (77.8%), eligibility to undergo genetic testing for their children with ASD (62.4%), potential harms caused by genetic testing (56.1%), previous use and experience among individuals affected by ASD (50.8%), and confidentiality issues (48.0%). Furthermore, web-based education was the preferable approach (85.4%). Our findings can help develop health education programs and/or materials regarding genetic testing for parents and physicians to facilitate better physician-parent communication and assist parents in making informed medical decisions regarding genetic testing. Autism Res 2019, 12: 1162-1170. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This study examined educational needs on genetic testing among 552 American parents of children with autism spectrum disorder (ASD). Results showed that most parents expressed interests in receiving health education regarding genetic testing (73.7%) and favored online education resources (85.4%). Preferred topics included accuracy, cost, and testing benefits. Our findings can help develop genetic testing related health education programs and materials for parents of children with ASD.
Asunto(s)
Trastorno del Espectro Autista/genética , Pruebas Genéticas , Educación en Salud/estadística & datos numéricos , Conocimientos, Actitudes y Práctica en Salud , Evaluación de Necesidades/estadística & datos numéricos , Padres , Adulto , Preescolar , Femenino , Humanos , Masculino , Estudios Prospectivos , Encuestas y Cuestionarios , Estados UnidosRESUMEN
DNM1L encodes a GTPase of the dynamin superfamily, which plays a crucial role in mitochondrial and peroxisomal fission. Pathogenic variants affecting the middle domain and the GTPase domain of DNM1L have been implicated in encephalopathy because of defective mitochondrial and peroxisomal fission 1 (EMPF1, MIM #614388). Patients show variable phenotypes ranging from severe hypotonia leading to death in the neonatal period to developmental delay/regression, with or without seizures. Familial pathogenic variants in the GTPase domain have also been associated with isolated optic atrophy. We present a 27-yr-old woman with static encephalopathy, a history of seizures, and nystagmus, in whom a novel de novo heterozygous variant was detected in the GTPase effector domain (GED) of DNM1L (c.2072A>G, p.Tyr691Cys). Functional studies in Drosophila demonstrate large, abnormally distributed peroxisomes and mitochondria, an effect very similar to that of middle domain missense alleles observed in pediatric subjects with EMPF1. To our knowledge, not only is this the first report of a disease-causing variant in the GED domain in humans, but this is also the oldest living individual reported with EMPF1. Longitudinal data of this kind helps to expand our knowledge of the natural history of a growing list of DNM1L-related disorders.
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Encefalopatías/diagnóstico , Encefalopatías/genética , Dinaminas/genética , Convulsiones/genética , Adulto , Alelos , Encefalopatías/patología , Femenino , GTP Fosfohidrolasas/genética , Heterocigoto , Humanos , Mitocondrias/genética , Mitocondrias/patología , Músculos/patología , Mutación Missense , Peroxisomas/genética , Peroxisomas/patología , Convulsiones/patologíaRESUMEN
BACKGROUND: Genetic providers face the challenge of having adequate time to conduct a comprehensive evaluation. Hypermobile Ehlers-Danlos (hEDS) syndrome has a complex array of symptoms. An initial visit can involve approximately 60-80 min and an additional 45 min for the check-in and checkout process. We propose a model to improve clinic flow and patient satisfaction by using: (a) pre-appointment questionnaire (b) disease information sheet outlining basic management and (c) itinerary detailing the visit. METHODS: New patients were given a questionnaire, an EDS information sheet, and a visit itinerary. In the end, a patient satisfaction survey was administered containing 18 questions pertaining to their satisfaction with the questionnaire, the information sheet, and their overall visit. Completed surveys were turned in to the front desk to maintain anonymity. RESULTS: Based on the survey results, patient satisfaction toward the implementation of a questionnaire was overwhelmingly positive. Survey responders found that the itinerary was added to their understanding of the appointment process and that the hEDS information sheets were helpful, understandable, and appropriate in length. Respondents said that they strongly agreed or agreed with the following statements: (a) I was satisfied with the visit; (b) I now have a better understanding of my condition; (c) This visit was successful in addressing my most pressing concerns; and (d) I would recommend this clinic to others. CONCLUSION: Designing a disease-centered model that implements patient-centered resources improves patient understanding and satisfaction for new hEDS patient visits. This model can be emulated in diagnosis and management of other complex genetic and nongenetic conditions.
Asunto(s)
Síndrome de Ehlers-Danlos/psicología , Asesoramiento Genético/normas , Satisfacción del Paciente , Mejoramiento de la Calidad , Síndrome de Ehlers-Danlos/diagnóstico , Asesoramiento Genético/psicología , Humanos , Visita a Consultorio MédicoRESUMEN
Aicardi syndrome is a rare neurodevelopmental disorder characterized by agenesis of the corpus callosum, other developmental brain abnormalities, chorioretinal lacunae, and severe seizures. Current clinical knowledge is derived from small series that focus on these major defects. The authors performed a health survey on a large number of affected children to expand this knowledge and to uncover previously unrecognized features of Aicardi syndrome. Responses received from caregivers of 69 children with Aicardi syndrome met inclusion criteria for data analysis. Ages ranged from 5 months to 32 years (mean, 88 months). All subjects were girls, except for 1 boy with a 47,XXY karyotype. The authors found that the growth rate in Aicardi syndrome slows at age 10 years to below the 5th percentile and that weight gain slows at age 7 years to below the 25th percentile. The median age of survival was estimated at 18.5 (+/-4) years, more favorable than previously reported. The most common complication aside from seizures was gastrointestinal dysfunction, present in >90%. The results from this survey contribute new information on Aicardi syndrome that will benefit clinical management, and collected data will benefit phenotype-driven research toward its underlying cause.