Which neurodevelopmental disorders get researched and why?

Journal article

Aim: There are substantial differences in the amount of research concerned with different disorders. This paper considers why.

Methods: Bibliographic searches were conducted to identify publications (1985–2009) concerned with 35 neurodevelopmental disorders: Developmental dyslexia, Developmental dyscalculia, Developmental coordination disorder, Speech sound disorder, Specific language impairment, Attention deficit hyperactivity disorder, Autistic spectrum disorder, Tourette syndrome, Intellectual disability, Angelman syndrome, Cerebral palsy, Cornelia de Lange syndrome, Cri du chat syndrome, Down syndrome, Duchenne muscular dystrophy, Fetal alcohol syndrome, Fragile X syndrome, Galactosaemia, Klinefelter syndrome, Lesch-Nyhan syndrome, Lowe syndrome, Marfan syndrome, Neurofibromatosis type 1, Noonan syndrome, Phenylketonuria, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Trisomy 18, Tuberous sclerosis, Turner syndrome, Velocardiofacial syndrome, Williams syndrome, XXX and XYY. A publication index reflecting N publications relative to prevalence was derived.

Results: The publication index was higher for rare than common conditions. However, this was partly explained by the tendency for rare disorders to be more severe.

Interpretation: Although research activity is predictable from severity and prevalence, there are exceptions. Low rates of research, and relatively low levels of NIH funding, characterise conditions that are the domain of a single discipline with limited research resources. Growth in research is not explained by severity, and was exceptionally steep for autism and ADHD.

Authors: Bishop, D

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Public Library of Science
• Journal: PLOS One
• Volume: 5
• Issue: 11
• Pages: e15112
• Publication date: 2010-11-01
• Edition: Publisher's version
• DOI: 10.1371/journal.pone.0015112
• EISSN: 1932-6203
• Language: English
• Keywords: Down syndrome; XYY; Marfan syndrome; Turner syndrome; Velocardiofacial syndrome; Prader-Willi syndrome; Fetal alcohol syndrome; Neurodevelopmental disorder; Developmental coordination disorder; Speech sound disorder; Angelman syndrome; Developmental dyslexia; Cri du chat syndrome; XXX; Rubinstein-Taybi syndrome; Galactosaemia; Neurofibromatosis type 1; Attention deficit hyperactivity disorder; Autistic spectrum disorder; Trisomy 18; Williams syndrome; research funding; Developmental dyscalculia; Tuberous sclerosis; Tourette syndrome; Lesch-Nyhan syndrome; Specific language impairment; Cornelia de Lange syndrome; Fragile X syndrome; Lowe syndrome; Cerebral palsy; Intellectual disability; Rett syndrome; Klinefelte syndrome; Noonan syndrome; Phenylketonuria; Duchenne muscular dystrophy
• Subjects: Neuroscience; Paediatrics; Epidemiology; Library & information science