Product information and disease description Place of product in therapy Disease description Burden of Ataxia-telangiectasia

Humanistic burden and health-related quality of life

11 evidence topics · 5 sources

PedsQL study in children and young people: design and population

“24 children/young people with A-T (mean age 11.2 ± 3.5 years; 13 males) and 20 parents were recruited, and 58% were reassessed after an average interval of 3.4 years.” (opens the source at this quote in a new tab)
“Participants were children and young people with A-T and disorders closely related to A-T recruited to the Childhood Ataxia Telangiectasia Neuroimaging Assessment Project (CATNAP) [14] through the United Kingdom National Paediatric A-T clinic at the Nottingham University Hospitals NHS Trust.” (opens the source at this quote in a new tab)
“QoL data from 20 healthy controls and their parents was used for comparison.” (opens the source at this quote in a new tab)

PedsQL study in children and young people: total scores compared with healthy controls

Rater	Ataxia-telangiectasia	Healthy controls	p value
Child or young person, total QoL	“53.8 ± 12.6”	“81.8 ± 11.8”	“<.0005”
Parent proxy, total QoL	“43.2 ± 13.2”	“90.7 ± 8.7”	“<.0005”

PedsQL study in children and young people: self-report, parent proxy report, age, and neurological disability

“Children and young people with A-T rated total QoL statistically significantly higher than their parents at both timepoints” (opens the source at this quote in a new tab)
“For the pooled (T1 and T2) dataset, there was no significant relationship between child QoL rating and age (r = −0.16, p = .380) (Fig. 1a), but a significant negative correlation was identified between parent QoL rating and the child's age (r = −0.43, p = .008) (Fig. 1b).” (opens the source at this quote in a new tab)
“Speech and Neuropathy contributed significantly to the model predicting QoL, with higher neurological scores (i.e., less impairment) predicting greater QoL” (opens the source at this quote in a new tab)
“Neurological disability does not determine child/young person QoL ratings in A-T. While certain aspects of neurological disability predict parent-proxy ratings, there is no decline in QoL over time.” (opens the source at this quote in a new tab)

PedsQL study in children and young people: limitations stated by the authors

“It may have been difficult for the child or young person to give an honest verbal response in front of their parent resulting in reporting bias.” (opens the source at this quote in a new tab)
“Therefore, while the data provides novel insights, the findings are exploratory and limited in their generalisability.” (opens the source at this quote in a new tab)

PROMIS survey of adult and pediatric participants and caregivers

“PRO evaluations of 90 international adult and pediatric A-T patients and their caregivers were completed via secure online administration of Patient-Reported Outcomes Measurement Information System (PROMIS) short forms evaluating anger, cognition, mood, social health, fatigue, pain, anxiety, and upper extremity function.” (opens the source at this quote in a new tab)
“It was found that a diagnosis of A-T complexly impacts patient PROs, but such data offers the potential for preventative and therapeutic interventions to improve the care of such patients.” (opens the source at this quote in a new tab)
“While most A-T patients and their caregivers feel their primary A-T medical provider has expertise and compassion in addition to being accessible and trustworthy, a significant percentage of study subjects did not agree that their provider was an expert in A-T or overall trustworthy.” (opens the source at this quote in a new tab)

Interviews with young people aged 16 to 27 years: study population

“Eleven young people (aged 16 – 27 years) and ten parents of young people (aged 16-27 years) responded to the invitation to take part in the My Life project.” (opens the source at this quote in a new tab)
“This represents around a third of all young people in this age group with the condition in the UK.” (opens the source at this quote in a new tab)

Interviews with young people aged 16 to 27 years: loss of walking, tiredness, and speech

“The loss of the ability to walk, (increasing) physical tiredness, and difficulties with speech and communicating were identified as impacting on, among other things, the inter-related concepts of identity and emotional well-being.” (opens the source at this quote in a new tab)
“The young people described the consequences of this in lost friendships and contact with peers, and a ‘narrowing’ of their life-worlds.” (opens the source at this quote in a new tab)
“Those not independently mobile, inside and/or outside of their home, typically regarded this as a key priority for change in their lives.” (opens the source at this quote in a new tab)

Interviews with young people aged 16 to 27 years: mental health and sources of emotional support

“A minority of parents currently, or had previously, had significant concerns about their young person’s mental health.” (opens the source at this quote in a new tab)
“Indeed, most believed they were their children’s only source of emotional/mental health support.” (opens the source at this quote in a new tab)

Fatigue, social isolation, and mental health in older children and adolescents

“Children and adolescents with A-T often complain of progressive daily fatigue which can be exacerbated by physical activities.” (opens the source at this quote in a new tab)
“Quality of life may deteriorate in older children and adolescents due to their increasing disabilities, social isolation, and the development of depression and anxiety. Attention to mental health care needs should be given to all children and adults with A-T.” (opens the source at this quote in a new tab)

Dependence in activities of daily living among adults older than 30 years with classic disease

“All patients with classic A–T beyond the age of 30 years were wheelchair-bound and dependent on others in activities of daily living (ADL).” (opens the source at this quote in a new tab)
“All Dutch patients were unable to write, type, or use a phone. All patients needed help with feeding.” (opens the source at this quote in a new tab)
“Although validated questionnaires to assess quality of life were not used by us, nor was this explicitly scored in any of the patients from the literature, we believe this is poor in older patients with A–T.” (opens the source at this quote in a new tab)

Parents as long-term caregivers

“Regardless of their own age, parents continued to be the most prominent caregivers for their child with A–T.” (opens the source at this quote in a new tab)