TABLE 1.
Selected characteristics at baseline for ill children (n=275)
| Demographic characteristic | Ill children |
|---|---|
| Sex | |
| Female | 139 (50.5) |
| Male | 136 (49.5) |
| Top concerns that brought parent to doctor* | |
| Not meeting developmental milestones | 54 (19.6) |
| Perinatal: diagnosis or problem noted | 51 (18.5) |
| Seizures | 47 (17.1) |
| Change in muscle tone | 34 (12.4) |
| Prenatal: diagnosis or problem noted | 33 (12) |
| Feeding difficulties | 30 (10.9) |
| Breathing difficulties | 21 (7.6) |
| Losing developmental milestones | 21 (7.6) |
| Age at entry to study, years | 6.6±5.2 (0–19)† |
| Age at initiation of diagnostic evaluation, months (n=261) | 12.1±25.5 (−5.8–183.5)†‡ |
| Age at diagnosis, years (n=203) | 2.2±3 (−0.4–15.7)†‡ |
| Time since parent first sought medical treatment, weeks (n=261) | 315.2±248.9 (7.9–980)† |
| Time since child’s diagnosis, weeks (n=203) | 269.6±231.3 (0–903.7)† |
| Time from initial diagnostic evaluation to confirmation of diagnosis, months (n=197) | 11.9±23.6 (0–177.9)† |
| Primary condition | |
| Multiorgan congenital abnormalities | 54 (19.6) |
| Severe neurological impairment – not yet diagnosed | 45 (16.4) |
| Lysosomal/peroxisomal leukodystrophy | 44 (16) |
| Mitochondrial encephalopathy/myopathy | 31 (11.3) |
| Neurodegenerative disease | 23 (8.4) |
| Structural central nervous system abnormalities | 22 (8) |
| Epileptic encephalopathy | 19 (6.9) |
| Small molecules diseases | 13 (4.7) |
| Neuromuscular diseases | 10 (3.6) |
| Other metabolic diseases | 3 (1.1) |
| Congenital disorders of glycosylation | 7 (2.5) |
| Other conditions not otherwise specified | 4 (1.5) |
Data presented as n (%) unless otherwise indicated.
*
Some responses are not reported in the table; overall, numbers totaled more than sample size because some parents provided multiple responses;
†
Data presented as mean ± SD (minimum – maximum);
‡
Negative values reflect prenatal evaluations and diagnoses