10 Profound learning difficulties and global developmental delay are common and most affected children cannot walk or talk.
There are several patients also present in the DECIPHER database who have duplications overlapping this large duplication in the child, including 280 551, with hirsuitism, feeding difficulties and global developmental delay; 283 584, with sacral dimple and low set ears; 1561, with frontal bossing and sacral dimple.
We examined 3 measures: patients' perceived hassle associated with self-care tasks (hassles), patients' difficulty in completing recommended care activities (difficulty), and a global assessment of their ability to care for their disease (care).
The EORTC QLQ-C30 questionnaire consists of 30 questions which assess functioning (physical, role, cognitive, emotional, social) and symptoms (fatigue, nausea and vomiting, pain, dyspnea, insomnia, appetite loss, constipation, diarrhea, financial difficulty), and a global health status score that assesses overall QOL.
These PROs included questions with ratings of difficulty, frequency, severity, and global ratings.
The EORTC QLQ-C30 contains: five functioning scales (physical, role, emotional, cognitive and social), nine symptom scales (fatigue, pain, dyspnoea, appetite loss, sleep disturbance, constipation, diarrhoea, nausea and financial difficulties) and the global health status/QOL scale.
There are five functional scales (physical, role, emotional, cognitive and social functioning), three symptom scales (fatigue, nausea/vomiting and pain), six single-item questions (about dyspnoea, insomnia, loss of appetite, constipation, diarrhoea and financial difficulties) and a global health/quality-of-life index.
Evidence exists that pharmacological treatments have an impact toward improvement in patients' difficulties, in particular emotional problems, physical and mental health, difficulties with employment and global disability.
On the contrary, there is more evidence that migraine-specific treatments improve emotional problems, physical and mental health, difficulties with employment and global disability.
It is useful both for the identification of individual items that cause most difficulty and for a global score and has been used successfully with older caregivers of PWD [ 38].
