Abstract:
:Previous research and clinical experience suggest that Huntington's disease (HD) can considerably affect family life, particularly for young people (YP) at risk. The goal of this study was to describe the experiences of YP from families affected by HD. YP were identified through the regional genetics clinic and the Scottish Huntington's Association. In-depth interviews were used to explore YP's experiences of finding out about HD in the family; perceptions of their own risk; caring activities; protective or risk factors; and the impact of HD on relationships with siblings, parents, extended family members, and the wider community. Thirty-three YP between the ages of 9 and 28 years were interviewed. A qualitative thematic analysis was undertaken. The analysis revealed four main themes: YP as carers, the worried well, those who cope, and those at risk/in need. These themes highlight the varied experience of growing up in a family affected by HD. Whilst some YP successfully coped, others experienced considerable problems and were at risk of physical and/or emotional harm. In understanding why some cope better than others, our findings suggest protective and risk factors within these themes. In particular, participants who grew up knowing about HD from an early age seemed to cope better.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Forrest Keenan K,Miedzybrodzka Z,van Teijlingen E,McKee L,Simpson SAdoi
10.1111/j.1399-0004.2006.00702.xsubject
Has Abstractpub_date
2007-02-01 00:00:00pages
120-9issue
2eissn
0009-9163issn
1399-0004pii
CGE702journal_volume
71pub_type
杂志文章abstract::Sixty-six percent of the at-risk persons and 74% of the partners in a large survey in Belgium have the intention of making use of predictive testing for Huntington's disease. One third of them, however, have expressed the intention of postponing the final decision for various reasons. The intention to be tested is not...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1989.tb02902.x
更新日期:1989-01-01 00:00:00
abstract::Hereditary spastic paraplegia (HSP) is rarely inherited in an X-linked recessive mode in pure and complicated forms. Recently, molecular linkage studies have suggested that these variant X-linked HSP conditions result from locus heterogeneity. In this paper we report on the clinical and linkage analysis of a kindred w...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1989.tb02915.x
更新日期:1989-02-01 00:00:00
abstract::We present a case of lethal fetal akinesia deformation sequence (FADS) caused by a frameshift variant in trans with a 148 kbp deletion encompassing 3-36 exons of AGRN. Pathogenic variants in AGRN have been described in families with a form of congenital myasthenic syndrome (CMS), manifesting in the early childhood wit...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13677
更新日期:2020-04-01 00:00:00
abstract::Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder characterized by postnatal growth deficiency, skeletal abnormalities, dysmorphic features and cognitive deficit. Mutations in two genes, CREBBP and EP300, encoding two homologous transcriptional co-activators, have been identified in ˜55...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12348
更新日期:2015-02-01 00:00:00
abstract::We report the case of a child with partial trisomy of the short arm of chromosome 17, which was characterized by 24-color spectral karyotyping (SKY) and other fluorescence in situ hybridization (FISH) methods. The child had phenotypic features previously associated with trisomy 17p, including facial characteristics, d...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.1999.550513.x
更新日期:1999-05-01 00:00:00
abstract::We report on a patient with Marfan's syndrome, with coexistent obstructive sleep hypopnea (OSH) and restrictive lung disease, complicated by respiratory insufficiency, who was successfully treated with nasal intermittent positive airway pressure (NIPPV) and oxygen. NIPPV therapy turned out to be effective on arterial ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1046/j.0009-9163.2002.00002.x
更新日期:2003-02-01 00:00:00
abstract::Van der Woude syndrome (VWS) is an autosomal dominant disorder manifested in cleft lip and/or palate and lip pits. Isolated clefts of the lip and/or palate (ICLP) have both genotype and phenotype overlap with VWS. Subjects with ICLP have abnormalities in brain structure and function. Given the similarities between VWS...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2007.00799.x
更新日期:2007-06-01 00:00:00
abstract::This report describes a 46,XY phenotypic female infant with absent uterus, probable agonadism, and bilateral upper amelia. The constellation of anomalies is similar to that of the patient described by Temoçin et al. (Acta Paediatr Jpn 1997: 39: 631-633), and may suggest a developmental link between genital region and ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1998.tb03693.x
更新日期:1998-07-01 00:00:00
abstract::Clinical, cytogenetic, and immunological data of a 5-year-old Japanese girl with Bloom's syndrome are described. Growth deficiency, photosensitivity, and a very mild facial telangiectatic erythema were present. Cytological studies revealed chromosomal aberrations and the characteristic high frequency in sister chromat...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1980.tb00123.x
更新日期:1980-02-01 00:00:00
abstract::Arrhythmogenic cardiomyopathy (ACM) is a familial cardiomyopathy featured by fibrofatty replacement of cardiomyocytes. Responsible genetic factors are not discernible in approximately one-third of ACM probands. To investigate this further, we performed whole genome sequencing in 14 mutation-negative ACM probands who u...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13642
更新日期:2019-12-01 00:00:00
abstract::Two brothers showed ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation. In addition, the younger brother had short stature associated with disorders of secretions of insulin, ACTH and GH. This is the third reported case of the syndrome of ichthyosis and hypogonadism. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1976.tb01583.x
更新日期:1976-03-01 00:00:00
abstract::Inherited bone marrow failure syndromes (IBMFS) are caused by mutations in genes involved in genomic stability. Although they may be recognized by the association of typical clinical features, variable penetrance and expressivity are common, and clinical diagnosis is often challenging. DNAJC21, which is involved in ri...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13370
更新日期:2018-08-01 00:00:00
abstract::RUNX2 (Runt-related transcription factor 2) is a master regulator of osteoblast differentiation, cartilage and bone development. Pathogenic variants in RUNX2 have been linked to the Cleidocranial dysplasia (CCD), which is characterized by hypoplasia or aplasia of clavicles, delayed fontanelle closure, and dental anoma...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13610
更新日期:2019-11-01 00:00:00
abstract::Cutis laxa is described in three cases: a 17-year-old man, his mother and his maternal grandmother. The onset of skin symptoms occurred from puberty to early adulthood. The skin was loose-hanging, wrinkled and without elasticity. X-ray examination showed numerous gastrointestinal diverticulae in the two older patients...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1991.tb03038.x
更新日期:1991-05-01 00:00:00
abstract::Here we report two families with myotonic dystrophy (DM) in which the asymptomatic parent proved to be in a pre-mutation state. Polymerase chain reaction (PCR) analysis of the region spanning the CTG expansion demonstrated that one father of the proband possessed (CTG)n repeats of n = 12 and 44 copies and the other of...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.1998.5440416.x
更新日期:1998-10-01 00:00:00
abstract::We report on two families in which one or two children had a severe disorder of skeletal development detected by prenatal ultrasonography. The children died postnatally and showed typical radiological and biochemical findings of perinatal hypophosphatasia. Biochemical analysis revealed a low activity of alkaline phosp...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.1999.560409.x
更新日期:1999-10-01 00:00:00
abstract::A slowly progressive type of muscular dystrophy affecting 11 known members of several Southern Manitoba Hutterite colonies is described. Though encompassing the facial characteristics of the facio-scapulo-humeral type and the proximal distribution of the limb-girdle type, it was felt that this disease represents a dis...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1976.tb01568.x
更新日期:1976-02-01 00:00:00
abstract::Peeling skin disease (PSD) is an autosomal recessive skin disorder caused by mutations in CDSN and is characterized by superficial peeling of the upper epidermis. Corneodesmosin (CDSN) is a major component of corneodesmosomes that plays an important role in maintaining epidermis integrity. Herein, we report a patient ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12294
更新日期:2014-10-01 00:00:00
abstract::An extremely rare pellagra-like condition has been described, which was partially responsive to niacin and associated with a multisystem involvement. The condition was proposed to represent a novel autosomal recessive entity but the underlying mutation remained unknown for almost three decades. The objective of this s...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12325
更新日期:2015-01-01 00:00:00
abstract::PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Thauvin-Robinet et al. (2013) The American Journal of Human Genetics 93: 141-149 SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signalling. Chudasama et al. (2013) The American Journal of Human Genetics 93: 1...
journal_title:Clinical genetics
pub_type: 评论,杂志文章
doi:10.1111/cge.12262
更新日期:2014-03-01 00:00:00
abstract::Two patients with trisomy for 18p and the proximal segment of 18q (trisomy 18q-) are reported and compared with similar cases from the literature. The phenotype of trisomy 18q- resembles that of full trisomy 18 but differs mainly in the birdlike face, small mouth, more pronounced microretrognathia, minor skeletal dysp...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1980.tb01359.x
更新日期:1980-07-01 00:00:00
abstract::The frequency of rare fragile sites was studied among 240 children in special schools for subnormal intelligence (IQ 52-85). 1/130 boys studied (0.8%) had the fragile site at Xq27.3 while it was not found in any girl (0/110). In two children an autosomal rare fragile site at 2q11.2 (2/240, 0.8%) was seen. In addition ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1986.tb00601.x
更新日期:1986-09-01 00:00:00
abstract::Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) caused by the deficiency of the enzyme α-galactosidase. It exhibits a wide clinical spectrum that may lead to a delayed or even missed diagnosis and the real incidence can be underestimated. We report the cases of two unrelated Italian families in whom...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12071
更新日期:2013-09-01 00:00:00
abstract::A 4-year-old Saudi female child with extreme failure to thrive, striking dysmorphic features, developmental delay, congenital hypoparathyroidism, UTI, seizures, chronic otitis media, chronic non-specific gastroenteritis and repeated life-threatening infections was followed from birth. She was the product of first-cous...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1992.tb03220.x
更新日期:1992-09-01 00:00:00
abstract::A cytogenetic survey of an unselected group of mentally retarded persons in a geographically limited area was made in order to establish the frequency of chromosome abnormalities within this group. In the area there were 2,157 patients, both institutionalized and living at home. A chromosome analysis was performed in ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1982.tb01441.x
更新日期:1982-11-01 00:00:00
abstract::A set of 15 surface measurements taken directly from the craniofacial region were determined in 51 patients with Waardenburg syndrome type I (WSI). A roentgencephamometric analysis including 20 linear dimensions was also performed by the use of cephalograms of 28 patients. Pairs between patients and controls of the sa...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1993.tb03836.x
更新日期:1993-07-01 00:00:00
abstract::Two unrelated children with partial deletion of the long arm of a chromosome no. 5 are reported. The boy presented with severe hypotonia, developmental delay, and a few minor defects of the face including frontal bossing, antimongoloid slant of the palpebral fissures, depressed nasal bridge and bilateral epicanthal fo...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb00692.x
更新日期:1981-03-01 00:00:00
abstract::The acrocephalosyndactylies (ACS) are a group of inherited disorders characterized by premature fusion of cranial sutures in association with abnormalities of the hands and feet. Based on their clinical features, different types of ACS have been described. We here report on a family with 9 individuals affected with AC...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1991.tb03095.x
更新日期:1991-10-01 00:00:00
abstract::Psoriasis is a multifactorial skin disease characterised by epidermal abnormalities and infiltration by lymphocytes and polymorphonuclear leukocytes (PMN). Skin-derived antileukoproteinase (SKALP), also known as elafin, is a potent inhibitor of human leukocyte elastase and proteinase 3, two PMN-derived proteinases imp...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1998.tb03703.x
更新日期:1998-07-01 00:00:00
abstract::SATB2-associated syndrome (SAS) is a recently identified disorder characterized by neurodevelopmental deficits and craniofacial anomalies. Assessments of speech, language, and feeding-related issues were conducted among 61 individuals with SAS (median age = 86 months, range = 26 months to 29 years of age). Individuals...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13619
更新日期:2019-12-01 00:00:00