Stress and Well‐Being Among Parents of Children with Potocki‐Lupski Syndrome

Abstract

Potocki-Lupski syndrome (PTLS) or duplication 17p11.2 syndrome is a newly characterized condition causing a variety of health problems with variable severity, including failure to thrive in infancy and childhood, hypotonia, structural heart anomalies, cognitive impairments, speech and learning difficulties, and autism. Due to its recent clinical characterization little is known about the psychosocial impact of this condition on patients and their families. This study evaluated whether parental psychosocial outcomes were associated with children's PTLS disease severity. Parents of 58 children with PTLS completed a cross-sectional survey that assessed parental stress, quality of life, and coping skills. Parental functioning was associated with greater severity of feeding difficulty and with lower severity of a cardiovascular defect. Findings from this study highlight potential support needs of parents of children affected by PTLS and suggest ways in which these needs may be addressed.

Being the Pillar for Children with Rare Diseases—A Systematic Review on Parental Quality of Life

“…The included studies stemmed from 10 different countries: Australia [ 29 ], Brazil [ 30 ], Canada [ 31 ], Germany [ 32 , 33 , 34 , 35 ], Iran [ 36 , 37 , 38 ], Ireland [ 39 ], the Netherlands [ 40 , 41 , 42 , 43 , 44 , 45 ], Poland [ 46 ], Sweden [ 47 ], and the U.S. [ 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 ]. Of the 31 studies, 28 used a cross-sectional design [ 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 46 , 47 , 48 , 50 , 51 , 52 , …”

“…Of the 31 studies, 28 used a cross-sectional design [ 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 46 , 47 , 48 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 58 , 59 ], whereas three were cohort studies [ 45 , 49 , 55 ]. Table 2 lists the children’s rare diseases by clinical category, which included chromosomal disorders [ 40 , 53 , 54 , 58 ], congenital diseases [ 34 , 44 , 45 ], hematologic and oncologic diseases [ 33 , 37 , 43 , 47 , 56 , 58 ], inflammatory diseases [ 39 , 41 , 48 , 49 , 59 ], metabolic disorders [ 32 , 36 ,…”

“…Table 2 lists the children’s rare diseases by clinical category, which included chromosomal disorders [ 40 , 53 , 54 , 58 ], congenital diseases [ 34 , 44 , 45 ], hematologic and oncologic diseases [ 33 , 37 , 43 , 47 , 56 , 58 ], inflammatory diseases [ 39 , 41 , 48 , 49 , 59 ], metabolic disorders [ 32 , 36 , 38 , 42 , 50 , 51 , 57 ], musculoskeletal diseases [ 30 , 35 , 46 , 52 ], and neuromuscular and neurologic disorders [ 29 , 31 , 40 , 55 ]. Four studies examined only mothers [ 37 , 43 , 54 , 55 ], 27 studies examined both mothers and fathers [ 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 38 , 39 , 40 , 41 , 42 , ...…”

“…The most frequently used instrument was the PedsQL™ Family Impact Module, used in seven studies [ 31 , 50 , 52 , 53 , 54 , 55 , 56 ]. A wide range of studies also used the Short Form Inventory in the different versions SF-8 [ 34 , 35 ], SF-12 [ 29 , 49 , 56 ], and SF-36 [ 36 , 47 , 55 ]. Three different disease-specific QoL instruments, the CQOLC for cancer [ 37 ], the CQOLCF for cystic fibrosis [ 48 , 49 , 59 ], and the TYR-QOL for tyrosinemia [ 59 ], were used.…”

A New Patient with Potocki–Lupski Syndrome: A Literature Review

“…13 Less than 50 individuals with PTLS have been reported. 14,15 The clinical features of the reported patients with PTLS are variable and include minor facial dysmorphisms, intellectual disability, speech delay, and behavioral disturbances (►Table 1). The developmental delay ranges from borderline to severe and is the most typical finding in this syndrome, with a prevalence of about 90% (►Table 2).…”