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. 2023 Aug 28;13(8):e068876. doi: 10.1136/bmjopen-2022-068876

Table 4.

Genetic diseases, other conditions and self-rated health

Details of genetic disease Author Result
Phenotype Medical history, clinical observation and physical examination Cullinane et al27 Case of leucoencephalopathy described. Patient presented with short stature, pes planus, hypotonia, history of osteogenic sarcoma.
Participants’ medical history: epilepsy, multiple cerebral cysts (removed by craniotomy/cyst excisions over the course of 15 years from age 5), left ventriculoperitoneal shunt inserted and later removed, multiple vascular malformations of the capillary–cavernous type with associated haematomas, surrounding gliosis, haemosiderin deposition, Rosenthal fibres and areas of white matter calcification.
Blood and urine testing Flynn et al28 Type 2 hyperprolinaemia (n=13, including 7 adults).
Mild hyperprolinaemia (n=50, proportion of adults unclear).
Seizures from hyperprolinaemia: 4 adults suffered grand mal seizures, 1 of whom had a severe learning disabilities, 1 suffered from petit mal seizures.
Genotype Whole exome sequencing Cullinane et al27 Identified a homozygous variant of the SNORD118 gene. The sister of this case, with milder symptoms were homozygous for the same variant.
Other conditions
Chronic inflammatory bowel disease McCormick and Manning33 No recorded Traveller with idiopathic inflammatory bowel disease.
Cancer All Ireland Traveller Health Study8 1% Travellers, Ireland (background population 1%).
0.3% Travellers, Northern Ireland.
Physical health problems Mac Gabhann18 Out of sample n=281 Travellers in a UK prison, the following physical health conditions were reported: asthma (n=12), ‘back’ problems (n=10), epilepsy (n=9) and arthritis (n=7).
Self-rated health:
Chronic health condition
Physical health
Daily activity or work
Kelleher et al
(Dimension 6 in
health status interview)19
41.5% (n=2022), chronic health condition diagnosed by GP
59.3% (n=1843), physical health not good≥1 day in last month
17.2% (2012), daily activity limited due to a long-term illness, health problem or disability

GP, general practitioner.