Psychosocial Functioning, Health-Related Quality of Life, and Family Impact in Galactosemia Patients

Author(s):  
Sabrina Vierling ◽  
Wendy Packman ◽  
Nicolle Bugescu ◽  
Michael A. Schmidt ◽  
Samantha Kountz-Edwards
2018 ◽  
Vol 103 (11) ◽  
pp. 3931-3938 ◽  
Author(s):  
Wesley Jim Goedegebuure ◽  
Manouk van der Steen ◽  
Justine Lenneke de With ◽  
Anita Hokken-Koelega

Abstract Background Children born small for gestational age (SGA) with a poor adult height (AH) expectation benefit from treatment with GH and additional gonadotropin-releasing hormone analog (GnRHa). Because both SGA birth and GnRHa treatment might negatively influence cognition, health-related quality of life (HRQoL), and psychosocial functioning, we assessed these outcomes at AH. Methods A randomized, dose-response GH study until AH involving 99 adolescents born SGA, of whom 61 children received 2 additional years of GnRHa treatment. At AH, the Wechsler Adult Intelligence Scale and TNO-AZL Adults Quality of Life questionnaire were administered to the study group. Additionally, the study group and 67 adolescents born SGA (19 GnRHa) from a second study group completed the Self-Perception Profile of Adolescents and Child/Adolescent Behavior Checklist at AH. Scores in GH-treated young adults with GnRHa treatment (GH/GnRHa group) were compared with GH-treated adolescents without GnRHa treatment (GH group) and a reference population. Results Mean age (SD) at AH was 17.5 (1.2) and 17.4 (1.4) years in the GH/GnRHa and GH group, respectively. Intelligence quotient scores were similar in GH/GnRHa and GH groups (96.33 vs 92.47). HRQoL was similar between both groups and also when compared with the reference population, but the GH/GnRHa group had a significantly lower perception of cognitive functioning. Self-perception and problem behavior were similar in the GH/GnRHa and GH groups. AH did not correlate with HRQoL, self-perception, or problem behavior. Conclusion Combined GH/GnRHa treatment has no long-term negative effects on cognition, HRQoL, self-perception, and behavior in early adulthood, compared with GH treatment only.


2016 ◽  
Vol 114 ◽  
pp. 173-179 ◽  
Author(s):  
Fadia AlBuhairan ◽  
Maliha Nasim ◽  
Ahlam Al Otaibi ◽  
Naila A. Shaheen ◽  
Saleh Al Jaser ◽  
...  

2019 ◽  
Vol 23 (8) ◽  
Author(s):  
Ana M. Gutierrez‐Colina ◽  
Lauren F. Quast ◽  
Cyd K. Eaton ◽  
Julia LaMotte ◽  
Mary G. Stolz ◽  
...  

2014 ◽  
Vol 30 (3) ◽  
pp. 326-332 ◽  
Author(s):  
Ana M. Gutierrez-Colina ◽  
Cyd K. Eaton ◽  
Jennifer L. Lee ◽  
Julia LaMotte ◽  
Ronald L. Blount

2020 ◽  
pp. 088307382096292
Author(s):  
Jamie L. Jackson ◽  
Christina X. Korth ◽  
Carine E. Leslie ◽  
Jennifer Cotto ◽  
May Ling Mah ◽  
...  

The health-related quality of life and emotional distress among mothers of sons with Duchenne or Becker muscular dystrophies (n = 82) were compared to sex- and age group–matched controls (n = 26). Participants self-reported health-related quality of life for themselves and their son(s), emotional distress, and mood/anxiety-related medication. Mothers reported poorer health-related quality of life across all domains of their health-related quality of life, as well as higher levels of emotional distress. Clinically elevated symptoms of anxiety were reported by 39% of mothers. Mothers’ report of poorer health-related quality of life for their son(s) was a significant predictor of worse health-related quality of life and emotional distress for themselves across most domains. Additionally, older age of mothers predicted greater energy/less fatigue and lower levels of anxiety. Results highlight the need for screening emotional distress among mothers, as well as consideration for accessible interventions to improve the psychosocial functioning among these families.


Author(s):  
Sarra Boukhobza ◽  
Tanja Stamm ◽  
Johannes Glatthor ◽  
Nicola Meißner ◽  
Katrin Bekes

Abstract Objectives To analyse possible changes in oral health-related quality of life (OHRQoL) before and after dental treatment under dental general anaesthesia (DGA) among Austrian preschool children. Methods A consecutive sample of 89 parents of children aged 2 to 5 years, suffering from early childhood caries (ECC) and scheduled for DGA, were recruited from two locations in Austria (Vienna and Salzburg). Parents self-completed the German version of the ECOHIS before (baseline) and 4 weeks (T4) after their child’s dental treatment. The ECOHIS consists of 13 questions and is divided into two main parts, namely, the child impact section (9 items) and the family impact section (4 items). Results A total of 80 children (89%) completed a sufficient number ECOHIS questions at baseline and the follow-up assessment after 4 weeks. “Pain in the teeth, mouth, and jaws” and “difficulty eating some foods” from the child section and parents’ ratings of “feeling upset” and “guilty” were the most frequently reported impacts at baseline. The ECOHIS total score decreased significantly from a mean of 14.60 to 9.89 (p < 0.001) after DGA treatment, revealing a large effect size for the child (0.8) section, family (0.6) section, and the total score (0.8). Parents rated their child’s overall and oral health significantly higher after the DGA treatment (p < 0.001). Conclusions Significant improvements in oral health-related quality of life were observed 4 weeks after DGA in children suffering from ECC. Clinical relevance ECC has an impact on OHRQoL. Rehabilitation under general anaesthesia makes a sustainable improvement.


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