Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up
Child; Cross-Sectional Studies; Female; Humans; Male; Follow-Up Studies; Disease Progression; Mutation; Severity of Illness Index; Preschool; infant; Q3 Literature Search; Atrophy; 3-Hydroxyacyl CoA Dehydrogenases/deficiency; Metabolism; Visual Acuity; Choroid Diseases/etiology/pathology; Electroretinography; Eye Diseases/diagnosis/etiology/physiopathology; Hypoglycemia/complications; Inborn Errors/complications/genetics; Myopia/etiology/physiopathology; Retinal Diseases/etiology/pathology; Vision Disorders/etiology/physiopathology
PURPOSE: To present long-term ocular complications and electroretinographic (ERG) findings in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency - a life-threatening metabolic disease - and the relation to age at diagnosis, treatment and other clinical parameters. METHODS: Ten children with LCHAD deficiency underwent repeated ophthalmological evaluations including ERG. RESULTS: All 10 children developed chorioretinal pathology. Regardless of age at diagnosis, initiation of treatment and age at examination, inter-individual differences were present. Profound chorioretinal atrophy, severe visual impairment and progressive myopia had developed in two teenagers. Milder chorioretinopathy with or without subnormal visual acuity was present in all other children. ERG was pathological in seven children. The chorioretinopathy often started in the peripapillary or perimacular areas. In one patient, unilateral visual impairment was associated with fibrosis. CONCLUSION: Early diagnosis and adequate therapy might delay but not prevent the progression of retinal complications. Late diagnosis with severe symptoms at diagnosis, neonatal hypoglycaemia and frequent decompensations may increase the progression rate of the chorioretinopathy. LCHAD deficiency, a potentially lethal disease, is sometimes difficult to diagnose. Unusual chorioretinal findings should alert the ophthalmologist to the long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, especially if there is a history of neonatal hypoglycaemia or failure to thrive.
2008
Fahnehjelm KT; Holmstrom G; Ying L; Haglind CB; Nordenstrom A; Halldin M; Alm J; Nemeth A; von Dobeln U
Acta Ophthalmologica
2008
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1111/j.1600-0420.2007.01121.x" target="_blank" rel="noreferrer">10.1111/j.1600-0420.2007.01121.x</a>
The Adolescent Adjustment Profile (AAP) in comparisons of patients with obesity, phenylketonuria or neurobehavioural disorders
Adolescent Transitions; Adjustment; Neurobehavioural syndromes; Obesity; Phenylketonuria; Questionnaires
Psychosocial development in children with chronic disease is a key issue in paediatrics. This study investigated whether psychosocial adjustment could be reliably assessed with the 42-item Adolescent Adjustment Profile (AAP) instrument. The study mainly focused on adjustment-to-obesity measurement, although it compared three patient groups with chronic conditions. All phenylketonuria (PKU) patients in Sweden between ages 9 and 18 and their parents and teachers were invited to participate. Patients with neurobehavioural syndromes and obesity were age- and gender-matched with PKU patients. Healthy children constituted a reference group. Psychosocial adjustment was measured using the AAP, which is a multi-informant questionnaire that contains four domains. Information concerning parents' socio-economic and civil status was requested separately. Respondents to the three questionnaires judged the PKU patients to be normal in all four domains. Patients with neurobehavioural syndromes demonstrated less competence and the most problems compared with the other three groups. According to the self-rating, the parent rating and the teacher rating questionnaires, obese patients had internalizing problems. The parent rating and the teacher rating questionnaire scored obese patients as having a lower work capacity than the reference group. Compared with the reference group, not only families with obese children but also families with children with neurobehavioural syndromes had significantly higher divorce rates. Obese patients were also investigated with the Strength and Difficulties Questionnaire (SDQ), another instrument that enables comparison between two measures of adjustment. The AAP had good psychometric properties; it was judged a useful instrument in research on adolescents with chronic diseases.
2008
Olsson G; Marild S; Alm J; Brodin U; Rydelius PA; Marcus C
2008
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1080/08039480801979586" target="_blank" rel="noreferrer">10.1080/08039480801979586</a>