Rare diseases in disabled children: an epidemiological survey

Guillem, P.; Cans, C.; Robert-Gnansia, E.; Aymé, S.; Jouk, P. S.
February 2008
Archives of Disease in Childhood;Feb2008, Vol. 93 Issue 2, p115
Academic Journal
Aim: To estimate the contribution of rare diseases (RD( to severe impairment in 7-year-old children. Methods: Data from a morbidity register of childhood impairments in a single French region were used. Impairments were classified as a mental, sensorial, neuromuscular (skeletal or movement-related) impairment (MSN‗I) according to the International Classification of Functioning. Details of children born from 1980 to 1994 and resident in the county under study when they were 7 years old were recorded. A rare disease was defined as a prevalence rate of <1 per 2000 general population. Results: 26% of children with severe MSN‗I had a rare disease; in 36% the MSN‗I was of unknown origin. The proportion of impairments that were due to a rare disease varied according to the type of impairment: 3.3% for severe psychiatric disorders; 16.0% for intellectual impairment; 37.2% for hearing impairment; 41.2% for neuromuscular, skeletal and movement impairment; and 81.1% for visual impairment. The overall prevalence rate of rare diseases was 2.1 per 1000 (459/218 283), and it increased significantly over time (p = 0.003). The latter increase was not associated with a decrease in the proportion of impairments of unknown origin, indicating an improvement in the survival of the children with a rare disease. Conclusions: In this study, a rare disease was at the origin of 26% of cases of severe MSN‗I. This proportion remained stable over time, whereas the prevalence rate, as well as the prevalence rate of MSN‗I disability, increased over time.


Related Articles

  • X-Linked Myotubular Myopathy: Report of a Case With Novel Mutation. Hortobágyi, Tibor; Szabó, Hajnalka; Kovács, Krisztián S.; Bódi, István; Bereg, Edit; Katona, Márta; Biancalana, Valérie; Túri, Sándor; Sztriha, László // Journal of Child Neurology;Apr2007, Vol. 22 Issue 4, p447 

    Myotubular myopathy is a well-defined entity within the centronuclear myopathy subgroup of congenital myopathies. The authors present a patient with the most severe X-linked recessive type (XLMTM). A baby boy presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis,...

  • Dyspraxia or developmental coordination disorder? Unravelling the enigma. Gibbs, John; Appleton, Jeanette; Appleton, Richard // Archives of Disease in Childhood;Jun2007, Vol. 92 Issue 6, p534 

    Dyspraxia is an enigma to many people, both professional and lay alike-what is it, how does it relate to developmental coordination disorder and associated conditions, how common is it, how is it recognised and diagnosed and how should it be managed? This article attempts to unravel this enigma...

  • Fifteen minute consultation: Tremor in children. Prasad, Manish; Ong, Min Tsui; Whitehouse, William P. // Archives of Disease in Childhood -- Education & Practice Edition;Aug2014, Vol. 99 Issue 4, p130 

    Tremor is defined as a rhythmic, involuntary, oscillatory movement of body parts. Although constituting nearly 20% of presentations with paediatric movement disorders, tremor in childhood, beginning in the neonatal period, has rarely been described in the literature. Tremor may be an isolated...

  • Dexedrine Dyskinesia: An Unusual latrogenic Tic. Case, Quentin; McAndrew, John B. // Clinical Pediatrics;Jan1974, Vol. 13 Issue 1, p69 

    This case report describes a dyskinesia associated with dextroamphetamine medication. Only three other such cases in children, those of Mattson and Calverley, were found by us in the literature. These cases serve as a reminder that the differential diagnosis of movement disorders in children...

  • Evaluating the CSAPPA subscales as potential screening instruments for developmental coordination disorder. Cairney, John; Veidhuizen, Scott; Kurdyak, Paul; Missiuna, Cheryl; Faught, Brent E.; Hay, John // Archives of Disease in Childhood;Nov2007, Vol. 92 Issue 11, p987 

    Objective: In this study, we assess the potential of three subscales of the Children's Self-Perceptions of Adequacy in and Predilection for Physical Activity (CSAPPA), a measure of generalised self-efficacy, as possible screens for developmental coordination disorder (DCD). Design: We used the...

  • Severe Infantile Hypotonia With Ethylmalonic Aciduria: Case Report. Okuyaz, Çetin; Ezgü, Fatih Süheyl; Biberoåğlu, Gürsel; Zeviani, Massimo; Tiranti, Valeria; Yılgör, Esat // Journal of Child Neurology;Jun2008, Vol. 23 Issue 6, p703 

    An 8-month-old girl was admitted to an outpatient clinic with significant hypotonia and weakness. Organic acid analysis in urine revealed a significant increase in ethylmalonic acid. A deoxyribonucleic analysis revealed the presence of a 62SG>A (G-to-A substitution at nucleotide 625) variant...

  • Brain State Before Error Making in Young Patients With Mild Spastic Cerebral Palsy. Hakkarainen, Elina; Pirilä, Silja; Kaartinen, Jukka; van der Meere, Jaap J. // Journal of Child Neurology;Oct2015, Vol. 30 Issue 11, p1489 

    In the present experiment, children with mild spastic cerebral palsy and a control group carried out a memory recognition task. The key question was if errors of the patient group are foreshadowed by attention lapses, by weak motor preparation, or by both. Reaction times together with...

  • Pattern of Childhood Epilepsies With Neuronal Migrational Disorders in Oman. Koul, Roshan; Jain, Rajeev; Chacko, Alexander // Journal of Child Neurology;Nov2006, Vol. 21 Issue 11, p945 

    Neuronal migrational disorders form a significant cause of psychomotor delay and intractable epilepsy in children. Pediatric neurology services are available at Sultan Qaboos University Hospital, Muscat, Oman, which is a tertiary care hospital for the whole country. The children undergoing...

  • Exchange Transfusion: A Low-Cost Alternative for Severe Childhood Guillain-Barré Syndrome. Baranwal, Arun K.; Ravi, Ravi N. M.; Singh, Rupa // Journal of Child Neurology;Nov2006, Vol. 21 Issue 11, p960 

    The high cost and nonavailability of plasmapheresis and intravenous immunoglobulin are prohibitive for the treatment of Guillain-Barré syndrome in resource-poor settings. Exchange transfusion can be an alternative therapy for severe disease in children. The effectiveness of exchange...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics