Why do we need a diagnosis? A qualitative study of parents’ experiences, coping and needs, when the newborn child is severely disabled

Graungaard, Anette Hauskov; Skov, Liselotte

doi:10.1111/j.1365-2214.2006.00666.x

Cited by 203 publications

(229 citation statements)

References 27 publications

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“…Many parents have difficulty accepting the disability of their child since, they have to re-evaluate the expectations they had for their child (Abidin, cited in Gupta, 2007). They experience feelings of grief and sorrow about the loss of their "normal" child, as well as feelings of uncertainty about the future (Taanila, Järvelin, & Kokkonen, 1998) and their ability to cope with the demands the disability will place on the family (Graungaard & Skov, 2006).…”

Section: Motivation For the Studymentioning

confidence: 99%

Resilience in families of children with developmental disabilities.

Greeff¹,

Nolting²

2013

Families, Systems, & Health

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DeclarationBy submitting this dissertation electronically, I declare that the entirety of the work contained therein is my own, original work, that I am the owner of the copyright thereof (unless to the extent explicitly otherwise stated) and that I have not previously in its entirety or in part submitted it for obtaining any qualification. First and foremost, I would like to thank the families that agreed to participate in this study.Without their input this study would not have been possible.Thank you also to Mr Davis, the principal of the Dorothea School in Cloetesville, for his help in identifying families meeting the selection criteria and for facilitating my contact with these families.A big thank you to my supervisor, Professor Abraham Greeff, for his ongoing patience, support and encouragement, not to mention all his valuable input regarding the research design, the implementation thereof and ultimately, the writing of this document.Thank you to Professor Martin Kidd for conducting the statistical analyses of the data, and for patiently explaining away any uncertainties.To my siblings and all my friends, thank you for the emotional and practical support provided.And last, but definitely not least, a big thank you to my wonderful parents. Thank you for your continuing and unconditional love and support, and for believing in me even when I didn't. I couldn't have done it without you! iv SUMMARY Family resilience refers to the family's ability to overcome adversity using inherent and/or acquired strengths and resources. The aim of this study was to identify factors contributing to the successful adaptation, or resilience, of families following the birth or diagnosis of a child with a developmental disability. The study is based on the theoretical frameworks of family resilience proposed by and Walsh (2003) Quantitative data was analysed through analyses of variance, Pearson product-moment correlations and a multiple regression analysis. The qualitative data was analysed using thematic content analysis. These analyses revealed that an acceptance of the situation, positive patterns of family communication, commitment and support within the family unit, and a positive attitude with regard to new experiences and challenges facilitate family adaptation and resilience, while negative patterns of communication within the family were found to be inversely related to family adaptation. An inverse association was also found between age of the child with a disability and family adaptation. These findings suggest some possible avenues of intervention by which the adaptation of families with a child with a developmental disability in South Africa can be facilitated or supported. v OPSOMMING Gesinsveerkragtigheid verwys na die gesin se vermoë om terugslae en teenspoed te oorkom deur die gebruik van bestaande en aangeleerde sterktes en hulpbronne. Die doel van die huidige studie was om kwaliteite te identifiseer wat tot die aanpassing, en dus veerkragtigheid, van gesinne met 'n kind met 'n ontwikkelingsgestremdheid bydra...

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Section: Motivation For the Studymentioning

confidence: 99%

Resilience in families of children with developmental disabilities.

Greeff¹,

Nolting²

2013

Families, Systems, & Health

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“…Inclusion criteria for these parents were: caring for at least one child with Autism, Downs, Cornelia de Lange, or Smith-Magenis syndromes. Since the emotional reaction of parental caregivers is highly influenced by the diagnostic process (Graungaard and Skov, 2007), we aimed to avoid this particular event and focus on the parents' stressful experiences of caring per se. Thus, in keeping with existing research (Hastings et al, 2006), children with developmental disabilities had to be aged between 3 and 19 years and living at home during the school term.…”

Section: Participantsmentioning

confidence: 99%

Parental caregivers of children with developmental disabilities mount a poor antibody response to pneumococcal vaccination

Gallagher¹,

Phillips²,

Drayson³

et al. 2009

Brain, Behavior, and Immunity

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In older populations, caregiving for a spouse with dementia has been associated with a poor antibody response to vaccination. The present study examined whether younger caregivers, specifically the parents of children with developmental disabilities, would also show a diminished antibody response to vaccination. At baseline assessment, 30 parents of children with developmental disabilities and 29 parents of typically developing children completed standard measures of depression, perceived stress, social support, caregiver burden, and child problem behaviours. They also provided a blood sample and were then vaccinated with a pneumococcal polysaccharide vaccine. Further blood samples were taken at 1- and 6-month follow-ups. Caregivers mounted a poorer antibody response to vaccination than control parents at both follow-ups. This effect withstood adjustment for a number of possible confounders and appeared to be, at least in part, mediated by child problem behaviours. The negative impact of caregiving on antibody response to vaccination is not restricted to older spousal caregivers, but is also evident in younger parents caring for children with developmental disabilities. The behavioural characteristics of the care recipients may be a key consideration in whether or not immunity is compromised in this context

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“…7 The inability to arrive at a timely and efficient diagnosis repre sents a substantial lost opportunity, as a diagno sis can limit or even halt further invasive, and at times futile, investigations for the neonate. Importantly, an accurate diagnosis informs prog nosis and may guide management decisions.…”

Section: Introductionmentioning

confidence: 99%

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

Daoud

Luco

et al. 2016

CMAJ

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Results: Of 20 newborns studied, 8 received a diagnosis on the basis of next-generation sequencing (diagnostic rate 40%). The diagnoses were renal tubular dysgenesis, SCN1A-related encephalopathy syndrome, myotubular myo pathy, FTO deficiency syndrome, cranioectodermal dysplasia, congenital myasthenic syndrome, autosomal dominant intellectual disability syndrome type 7 and Denys-Drash syndrome.Interpretation: This pilot study highlighted the potential of next-generation sequencing to deliver molecular diagnoses rapidly with a high success rate. With broader use, this approach has the potential to alter health care delivery in the NICU. AbstractSee also www.cmaj.ca/lookup/doi/10.1503/cmaj.160490Research CMAJ, August 9, 2016, 188(11) E255and clinicians providing care. 7 The inability to arrive at a timely and efficient diagnosis repre sents a substantial lost opportunity, as a diagno sis can limit or even halt further invasive, and at times futile, investigations for the neonate. Importantly, an accurate diagnosis informs prog nosis and may guide management decisions.The advent of nextgeneration sequencing has greatly advanced the ability to rapidly identify the novel genes responsible for disease. 8 Whole exome sequencing (sequencing of the coding portion of the genome) is beginning to be used on a clinical basis in tertiary care centres.9,10 In these initial clinical cohort studies, a molecular diagnosis was provided by wholeexome sequencing for about 25% of families. The pro portion increased to 31% when the patient's par ents were also analyzed. 9 Another study used retro spective wholegenome sequencing to make a diagnosis in 57% of 35 children from the inten sive care setting. 11Although wholeexome and wholegenome sequencing are powerful tools, important condi tions are required for translation of these meth ods to the clinic or hospital setting. The avail ability of highthroughput sequencers, complex and costly infrastructure, and personnel with bioinformatics expertise are prerequisites. These resources may not be broadly available within some health care systems, and other strategies may be more relevant and effective.Another attractive alternative is analysis based on nextgeneration sequencing that focuses only on the clinically relevant genes with known associated clinical phenotypes. 12This strategy offers several advantages over wholeexome or wholegenome sequencinginterpretation of variants may be more straight forward, a higher depth of coverage can be read ily achieved, and less infrastructure and fewer personnel are required -all of which contribute to a more rapid return of results.For this pilot study, we evaluated the perform ance of a targeted nextgeneration sequencing panel that included 4813 "diseaserelevant" genes in a cohort of newborns with rare disease in the NICU and assessed the effectiveness of this method to accurately diagnose these critically ill babies. Methods ParticipantsWe recruited patients for this pilot study between January and December 2014 from the NICUs of 2 regional hospi...

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Why do we need a diagnosis? A qualitative study of parents’ experiences, coping and needs, when the newborn child is severely disabled

Abstract: Parents' process of realization was related to the diagnostic process, and information and communication should be individualized accordingly. Parents wanted to co-operate and they needed possibilities for active coping with their situation.

Cited by 203 publications

References 27 publications

Resilience in families of children with developmental disabilities.

Resilience in families of children with developmental disabilities.

Parental caregivers of children with developmental disabilities mount a poor antibody response to pneumococcal vaccination

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

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