Table 1.
Participant characteristics for all sites. ACE = angiotensin-converting-enzyme; ADHD = attention-deficit hyperactivity disorder; ASD = autism Spectrum Disorders; CNL= Kempenhaeghe Centre for Neurological Learning disabilities; DMD = Duchenne muscular dystrophy; ErasmusMC = Erasmus University Medical Centre; NAO = Not otherwise specified; Radboudumc = Radboud university medical center; SDQ = strength and difficulties questionnaire for emotional and behavioral problems; UMCG = University Medical Centre Groningen. The following DMD mutations were classified: (1) mutations upstream of intron 44 were considered Dp140+; (2) mutations involving the transcription start site in intron 44 or involving the genomic region downstream of exon 51 were considered Dp140—[30]; (3) mutations downstream of exon 63 were considered Dp71—[31]; and (4) mutations in-between exon 45 and 50, from which expression of Dp140 could not be predicted.
| Characteristics | DMD | HC |
|---|---|---|
| Total | Total | |
| Participants, n | 57 | 56 |
| Age, yr, median (range) | 13.0 (5–18) | 10.0 (5–18) |
| DMD mutations, n | ||
| Exon 1–44 (Dp140+) | 27 | - |
| Exon 51–62 (Dp140−) | 16 | - |
| Exon 63–79 (Dp71−) | 2 | - |
| Intron 44–exon 50 (Undefined) | 7 | - |
| Urogenital/gastrointestinal problems, n | ||
| Small bladder capacity | 1 | - |
| Urinary tract infection | - | 1 |
| Phimosis | 2 | - |
| Cryptorchidism | - | 2 |
| Hypospadias | 1 | 1 |
| Kidney stones | 1 | - |
| Hydronephrosis | - | 1 |
| Surgery, n | ||
| Scoliosis | 10 | - |
| Bladder reduction | 1 | - |
| Circumcision | 3 | 1 |
| Cryptorchidism repair | - | 2 |
| Hypospadias repair | 1 | 1 |
| Inguinal hernia | 3 | - |
| Fractures (e.g., hip) | 2 | - |
| Medication, n | ||
| Laxatives | 15 | - |
| Anticholinergics | ||
| Oxybutynin | 1 | - |
| Diuretics | 2 | - |
| ACE inhibitors | 14 | - |
| Beta2-sympaticomimetics/inhaled | 1 | 5 |
| corticosteroids | ||
| Psychopharmaceuticals | ||
| Methylphenidate | 3 | 1 |
| Fluoxetine | 1 | - |
| Aripiprazole | 1 | - |
| Steroid treatment, n | 42 | - |
| Wheelchair bound, n | 47 | - |
| Neuropsychiatric, neurodevelopmental or learning disorders, n | ||
| ADHD | 4 | 1 |
| ASD | 4 | 1 |
| Anxiety disorder | 1 | 1 |
| Dyslexia | 1 | 3 |
| Learning disorder NAO | - | 1 |
| SDQ total problems score, mean (SD) | 8.9 (5.3) | 6.6 (5.0) |
| Parent report | 9.4 (5.1) | 6.5 (5.5) |
| Self-report | 8.3 (5.5) | 6.6 (4.5) |