Family Experiences Associated With a Child's Diagnosis of Fragile X or Down Syndrome: Evidence for Disruption and Resilience

Poehlmann, Julie; Clements, Melissa; Abbeduto, Leonard; Farsad, Venous

doi:10.1352/0047-6765(2005)43[255:feawac]2.0.co;2

Cited by 83 publications

(92 citation statements)

References 23 publications

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“…These could be similar to those in Western countries (Ekelund et al 2008;National Screening Committee 2007), enabling parents to plan and prepare for their child both emotionally and practically (Poehlmann et al 2005;Skotko et al 2009). For example, parents could begin to identify support services and address and adapt their lifestyles.…”

Section: Discussionmentioning

confidence: 85%

“…However, parents with a definitive diagnosis can experience similar emotions to parents of non-affected children, possibly because DS is a common genetic condition with a fairly good prognosis (Choi et al 2011;Devlin and Morrison, 2004;Lenhard et al 2005). Early diagnosis can also reduce misdiagnoses and provision of incorrect information by HCPs (Poehlmann et al 2005).…”

Section: Discussionmentioning

confidence: 99%

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Pakistani mothers’ and fathers’ experiences and understandings of the diagnosis of Down syndrome for their child

Ahmed

Jafri

et al. 2014

J Community Genet

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Down syndrome (DS) is a relatively common chromosomal condition, which can be diagnosed prenatally. However, little is known about the diagnosis of the condition in developing countries. This qualitative study explored parents' experiences of the diagnosis of DS in Pakistan. Fifteen mothers and fifteen fathers of children with DS had semistructured interviews, which were analysed using thematic analysis. All the parents received their child's diagnosis after birth, ranging from the postnatal period to 7 years of age. Parents recalled receiving little or no information at the time of diagnosis, leading to misunderstandings about the cause and nature of their child's condition. Some parents referred to their child being "Mongol" and were unaware of "Down syndrome" as the more appropriate term for the condition. Use of such terms for DS restricted parents' ability to source further information about the condition. Many parents showed poor understanding of the aetiology and prognosis of the condition. Improved training for healthcare professionals in recognising key features of DS in the neonatal period or in early childhood could enable earlier diagnosis of the condition. In addition, provision of accurate information in a sensitive manner following diagnosis could enable parents to optimise their child's well-being.

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Section: Discussionmentioning

confidence: 85%

Section: Discussionmentioning

confidence: 99%

Pakistani mothers’ and fathers’ experiences and understandings of the diagnosis of Down syndrome for their child

Ahmed

Jafri

et al. 2014

J Community Genet

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“…There are many observations common to families who have children with other developmental disabilities such as autism or Down syndrome (Poehlmann, Clements, Abbeduto, & Farsad, 2005;Stoner et al, 2005). It may be helpful for SLPs and other practitioners to recognize similarities between children with FXS and other developmental disabilities.…”

Section: Experiences Specific To Families With Fxs?mentioning

confidence: 99%

Communication in Young Children With Fragile X Syndrome: A Qualitative Study of Mothers' Perspectives

Brady

Skinner

Roberts

et al. 2006

Am J Speech Lang Pathol

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Purpose: To provide descriptive and qualitative information about communication in young children with fragile X syndrome (FXS) and about how families react to and accommodate communication differences in their children. Method: In-depth interviews were conducted with 55 mothers of young children with FXS. Interviewers asked mothers to describe their children's communication, strategies they used to help promote their children's communication, communication-related frustrations, their expectations for their children, and the roles that they perceive for themselves. Results: Over half the children were nonverbal and learning to communicate with augmentative and alternative communication. Mothers reported using strategies that were developmentally appropriate and recommended by early childhood experts, such as reading and talking to their children. Many mothers identified challenges faced in helping their child to communicate, and some cited difficulty obtaining speechlanguage services as a challenge. Mothers identified their roles as caregiver, teacher, therapist, and advocate. Conclusions: The perspectives offered by mothers are valuable because they indicate how children with FXS communicate in natural contexts. Information about mothers' expectations and roles may help clinicians to be sensitive to variables that will affect working with young children and their families.

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“…Family coping and adjustment factors may be particularly important in understanding outcomes for children with DS, and the positive potential outcomes and unique experiences for these families should be further explored (Cuskelly, Hauser-Cram, & Van Riper, 2008;Joosa & Berthelsen, 2007;Poehlmann, Clements, Abbeduto, & Farsad, 2005;Van Hooste & Maes, 2003). One area that needs further exploration is the experience of parents who receive their child's diagnosis during the prenatal or postnatal period.…”

mentioning

confidence: 99%

Receiving the Initial Down Syndrome Diagnosis: A Comparison of Prenatal and Postnatal Parent Group Experiences

Goff¹,

Springer²,

Foote³

et al. 2013

Intellectual and Developmental Disabilities

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This study explored the preliminary experiences of parents upon learning of their child's diagnosis of Down syndrome. Qualitative data from a web-based, national survey were analyzed based on two groups: prenatal (n 5 46) or postnatal (n 5 115) diagnosis. Three primary categories emerged from the data analysis: prenatal screening/testing decisions by parents, the adjustment process for parents, and postdiagnosis resources and support for parents. Participants' rationale behind pursuing testing ranged from wanting to be better prepared to not pursuing testing because it was not a factor in continuing the pregnancy. Participant reactions to the diagnosis involved a range of intense preliminary emotions; participants described their extreme grief and loss experience at the initial news of the diagnosis, which also was ambiguous in nature and required differing timelines of adjustment. Finally, participants described experiences with medical professionals, information/ education, and faith/religion as resources and areas of support, although not all were described as positive in nature. Participants in both groups identified having negative experiences with medical professionals during the diagnosis process. The results indicated the importance of these early experiences for parents of children with Down syndrome and emphasize providing effective education, resources, and practical information from reliable sources.

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Family Experiences Associated With a Child's Diagnosis of Fragile X or Down Syndrome: Evidence for Disruption and Resilience

Cited by 83 publications

References 23 publications

Pakistani mothers’ and fathers’ experiences and understandings of the diagnosis of Down syndrome for their child

Pakistani mothers’ and fathers’ experiences and understandings of the diagnosis of Down syndrome for their child

Communication in Young Children With Fragile X Syndrome: A Qualitative Study of Mothers' Perspectives

Receiving the Initial Down Syndrome Diagnosis: A Comparison of Prenatal and Postnatal Parent Group Experiences

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