Newborn screening for Pompe disease: Parental experiences and follow‐up care for a late‐onset diagnosis

Prakash, Supraja; Penn, Jeremy D.; Jackson, Kelly E.; Dean, Lori Williamson

doi:10.1002/jgc4.1615

Cited by 12 publications

(7 citation statements)

References 34 publications

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“…Concerns about the potential for psychosocial disturbances to familial bonds from other NBS programs have focused on parents receiving false-positive NBS results [ 22 ]. However, although there are different studies thus far that have prospectively explored the psychosocial burden of families with genetically confirmed screening results after NBS [ 23 , 24 ] as well in neuromuscular disorders like Pompe disease [ 25 , 26 ], there is only one study focusing on this topic in SMA in Australia with a good acceptance for a pilot project from a parent perspective [ 27 ]. Thus, we performed the first study investigating the psychosocial impact of early diagnosis via genetic NBS for SMA, with the purpose to improve the follow-up care of families after NBS.…”

Section: Discussionmentioning

confidence: 99%

Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening

et al. 2022

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The aim of this study was to assess the psychosocial burden in parents of children with spinal muscular atrophy (SMA), detected by newborn screening (NBS), for which first pilot projects started in January 2018 in Germany. The survey, performed 1–2 years after children’s diagnosis of SMA via NBS, included 3 parent-related questionnaires to evaluate the psychosocial burden, quality of life (QoL)/satisfaction and work productivity and activity impairment in the families. 42/44 families, detected between January 2018 and February 2020, could be investigated. Interestingly, statistical analysis revealed a significant difference between families with children that received SMN-targeted therapy vs. children with a wait-and-see strategy as to social burden (p = 0.016) and personal strain/worries about the future (p = 0.02). However, the evaluation of QoL showed no significant differences between treated vs. untreated children. Fathers of treated children felt more negative impact regarding their productivities at work (p = 0.005) and more negative effects on daily activities (p = 0.022) than fathers of untreated children. Thus, NBS in SMA has a psychosocial impact on families, not only in terms of diagnosis but especially in terms of treatment, and triggers concerns about the future, emphasizing the need for comprehensive multidisciplinary care. Understanding the parents’ perspective allows genetic counselors and NBS programs to proactively develop a care plan for parents during the challenging time of uncertainty, anxiety, frustration, and fear of the unknown.

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Section: Discussionmentioning

confidence: 99%

Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening

et al. 2022

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“…This reversed parent-professional role may be associated with an increased sense of responsibility in parents. This heightened responsibility manifests in decisions related to treatments and in the exhausting pursuit ("odyssey") of specialized centers offering more advanced therapeutic interventions [11,23].…”

Section: The Unspoken Fearsmentioning

confidence: 99%

“…They often experience a sense of isolation and neglect as the illness demands the involvement of their parents, thereby causing siblings to shoulder added responsibilities within the family [24]. Families confronting rare genetic disorders encounter numerous challenges that comprise a condition of burden and uncertainty due to the management of medical complexities, grief, and worries regarding present and future generations [11,25].…”

Section: The Unspoken Fearsmentioning

confidence: 99%

“…Speech/feeding problems or the decline in motor functions limit children's daily activities, with restricted participation in social and physical activity (mainly due to fatigue in sport practice) [10]. Nevertheless, the early initiation of ERT seems to have a good impact on QoL, facilitating earlier independent walking and/or reducing the need for ventilation [11,12]. Furthermore, learning problems and attention deficits observed in children with PD in comparison with peers, together with negative mood symptoms, may have a negative impact on QoL [13].…”

Section: Introductionmentioning

confidence: 99%

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Assessment of Parental Needs and Quality of Life in Children with a Rare Neuromuscular Disease (Pompe Disease): A Quantitative–Qualitative Study

Benedetto,

Musumeci,

Giordano

et al. 2023

Behavioral Sciences

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Pompe disease (PD) is a rare metabolic disorder with progressive neuromuscular consequences that negatively impact a child’s development and quality of life (QoL). Despite an improved prognosis with treatment, the risk for early death due cardiorespiratory crisis remains. Parents not only face physical fatigue and family distress in coping with the child’s special needs but also experience emotions, worries, and unexpressed needs (a “humanistic burden”) that require supportive interventions. Fourteen parents of children with PD completed an online self-report questionnaire assessing their child’s QoL, their own parental burden of care, and disease-related issues. The aim was to estimate the associations between the child’s QoL and the caregiver’s burden levels. Three mothers were also interviewed. A total of 57.1% of parents lived with moderate/severe burden conditions; worse QoL for the child was associated with higher levels of caregiver burden (rS[N = 14] = −0.67, p < 0.01). Uncertainty about the child’s future was a state commonly described by mothers. However, the child’s resilience, normalization of disease, and coping strategies (primarily positive appraisal and focusing on the present) alleviated suffering and helped mothers maintain family functioning. Finally, dissatisfaction with communication in relationships with professionals emerged. In conclusion, a typical pediatric palliative care approach is recommended since it manages to guarantee parents empathetic and supportive communication from healthcare professionals, alleviating feelings of isolation and loneliness in parents.

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“…Combining therapies may also be considered for optimal outcomes, such as using next-generation ERTs for peripheral symptoms and intrathecal administration of gene therapy for neuronal aspects. Continual development of more effective therapies is necessary to properly manage Pompe disease and provide treatment options for patients [39][40][41][42][43][44][45][46][47][48][49][50][51][52][53][54][55][56][57].…”

Section: Am J Biomed Sci and Resmentioning

confidence: 99%

Untitled

2023

AJBSR

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Pompe disease, acid maltase disease, is a rare, autosomal recessive inherited metabolic disorder from the group of lysosomal storage diseases, which is based on a genetically caused deficiency of an enzyme and is treatable by substitution of this enzyme. Pompe disease is also known as myopathy due to acid maltase deficiency, α-1,4-glucosidase deficiency or acid α-glucosidase deficiency, glycogen storage disease type II or glycogenosis type II. It is inherited in an autosomal recessive manner. When each parent carries one copy of the mutated gene the child will be affected by Pompe disease. Pompe disease is one of the metabolic myopathies and is a glycogen storage disease. The incidence of Pompe disease is estimated to be approximately 1:40,000-1:200000. The disease is due to a genetic deficiency or complete absence of the lysosomal Enzyme Acid α-glucosidase. GAA degrades glycogen to glucose, particularly in the lysosomes of muscle tissue. Due to the lack of enzyme, glycogen derived from autophagy accumulates in the lysosomes. As with other lysosomal storage diseases, the cells are affected in their function first, and increasingly as the disease progresses, the entire muscle tissue is affected. Once damage has occurred, it is usually irreversible. Three different types are known, an infantile form (IOPD), a non-classic IOPD without cardiac involvement and a late onset LOPD. IOPD patients show a GAA enzymatic activity of 1-3 %, in LOPD patients an enzyme activity of 2-40 % of GAA is present. Diagnosis will be confirmed by GAA enzyme analysis prenatally in amniotic fluid and postnatally by alpha 1-4 glucosidase activity in the blood. The later the disease appears the better it can be treated. This manuscript focuses on the present therapeutical options to treat Pompe disease in children and shed light on present molecular research curing the disease.

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Newborn screening for Pompe disease: Parental experiences and follow‐up care for a late‐onset diagnosis

Cited by 12 publications

References 34 publications

Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening

Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening

Assessment of Parental Needs and Quality of Life in Children with a Rare Neuromuscular Disease (Pompe Disease): A Quantitative–Qualitative Study

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