• Prader-Willi syndrome 55,5%, Gross-Tsur V 2000
• Phenylketonuria 100%, Huijbregts SC, 2002
• Velocardiofacial syndrome 44%, Niklasson L, 2001
• Fragile X Syndrome, Hagerman RJ 1994

Miscellaneous

1. McConville BJ, Length of the Y chromosome and chromosomal variants in inpatient children with psychiatric disorders, Can J Psychiatry. 1983
2. Weinberg WA, Primary disorder of vigilance, J Pediatr. 1990
3. Hochreutener H, Dubowitz syndrome, Monatsschr Kinderheilkd. 1990
4. Pueschel SM, Behavioural observations in children with Down's syndrome, J Ment Defic Res. 1991 [50%]
5. Mayes SD, The relationship of HIV status, type of coagulation disorder, and school absenteeism to cognition, educational performance, mood, and behavior of boys with hemophilia, J Genet Psychol. 1996 [28,3%]
6. Shaffer LG, A clinical and molecular study of mosaicism for trisomy 17, Hum Genet. 1996
7. Steyaert J, A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy, Clin Genet. 1997
8. Page T, Developmental disorder associated with increased cellular nucleotidase activity, Proc Natl Acad Sci U S A. 1997
9. Niedermeyer E., Frontal lobe disinhibition, Rett syndrome and attention deficit hyperactivity disorder, Clin Electroencephalogr. 2001
10. Berry GT, Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency, J Inherit Metab Dis. 2001
11. Zelnik N, Range of neurologic disorders in patients with celiac disease, Pediatrics. 2004
12. Le Caignec C, Inherited ring chromosome 8 without loss of subtelomeric sequences, Ann Genet. 2004
13. Orrico Alfredo, Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q), American Journal of Medical Genetics, 2005
14. Lin JJ, Psychological presentations without hepatic involvement in Wilson disease, Pediatr Neurol. 2006

Phenylketonuria


15. Diamond A, Phenylalanine levels of 6-10 mg/dl may not be as benign as once thought, Acta Paediatr Suppl. 1994
16. Weglage J, Deficits in selective and sustained attention processes in early treated children with phenylketonuria..., Eur J Pediatr. 1996
17. Diamond A, Prefrontal cortex cognitive deficits in children treated early and continuously for PKU, Monogr Soc Res Child Dev. 1997
18. Huijbregts S, Inhibition of prepotent responding and attentional flexibility in treated phenylketonuria, Dev Neuropsychol. 2002
19. Huijbregts SC, Sustained attention and inhibition of cognitive interference in treated phenylketonuria: associations with concurrent and lifetime phenylalanine concentrations, Neuropsychologia. 2002
20. Antshel KM, Timing is everything: executive functions in children exposed to elevated levels of phenylalanine, Neuropsychology 2003

Fragile X Syndrome

21. Kerbeshian J, A family with fragile-X syndrome, J Nerv Ment Dis. 1984
22. Hagerman R, Learning disabilities and attentional problems in boys with the fragile X syndrome, Am J Dis Child. 1985
23. Lachiewicz AM, Behavior problems of young girls with fragile X syndrome..., Am J Med Genet. 1994
24. Hagerman RJ, Evaluation of school children at high risk for fragile X syndrome utilizing buccal cell FMR-1 testing, Am J Med Genet. 1994
25. Bregman JD, Fragile X syndrome: genetic predisposition to psychopathology, J Autism Dev Disord. 1988
26. Backes M, Cognitive and behavioral profile of fragile X boys: correlations to molecular data, Am J Med Genet. 2000
27. Cornish K, A neuropsychological and behavioural profile of attention deficits in fragile X syndrome, Rev Neurol. 2001
28. McCauley E, Psychosocial development in adolescents with Turner syndrome, J Dev Behav Pediatr. 2001
29. Boycott K, A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD, Am J M Genet A. 2003
30. Russell HF, Increased Prevalence of ADHD in Turner Syndrome with No Evidence of Imprinting Effects, J Pediatr Psychol. 2006

Velocardiofacial syndrome

31. Papolos DF, Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome..., Am J Psychiatry. 1996
32. Carlson C, Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders, Am J Hum Genet. 1997
33. Sugama S, Morphometry of the head of the caudate nucleus in patients with velocardiofacial syndrome (del 22q11.2), Acta Paediatr. 2000
34. Niklasson L, Neuropsychiatric disorders in the 22q11 deletion syndrome, Genet Med. 2001
35. Niklasson L, Chromosome 22q11 deletion syndrome (CATCH 22): neuropsychiatric and neuropsychological aspects, Dev Med Child Neurol. 2002
36. Antshel KM, Behavior and corpus callosum morphology relationships in velocardiofacial syndrome, Psychiatry Res. 2005
37. Zagursky K, Prevalence of ADHD in Children with Velocardiofacial Syndrome: A Preliminary Report, Curr Psychiatry Rep. 2006

Prade-Willi syndrome

38. Gross-Tsur V, Prader-Willi syndrome: medical, emotional and cognitive facets, Harefuah. 2000
39. Gross-Tsur V, Cognition, attention, and behavior in Prader-Willi syndrome, J Child Neurol. 2001
40. Thomas JA, Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13..., Am J Med Genet A. 2003
41. Wigren M, ADHD symptoms and insistence on sameness in Prader-Willi syndrome, J Intellect Disabil Res. 2005