Over 80 genetic conditions have now been reported in people who have also been diagnosed with autism spectrum disorders (ASD). A number of these have specific implications for management and intervention, which if not identified, can result in a sub-optimal level of care, complications or even permanent damage. Kenneth J. Aitken shows that the notion of a single condition known as 'autism' is no longer tenable, challenging current trends in the diagnosis and management of these behaviours by drawing on what has been learned about brain function, genetics, epidemiology and neurology. The book covers the biology and genetics of ASD, provides summaries of the various related genetic conditions and research linking these to ASD, treatment and management issues, animal models and, for each, information on support groups and relevant professional organizations. ''An A-Z of Genetic Factors in Autism'' is an essential resource for a wide range of clinical professionals and students interested in the autism spectrum disorders, including clinical and educational psychologists, dieticians, psychiatrists, neurologists, school staff, social workers and residential care staff.
Preface. Acknowledgements. Introduction. Why might you need a book like this? Does one size fit all as far as help/treatment goes? 'Alternative' approaches. ASD and 'Inborn errors of Metabolism'. Biochemical individuality. Is ASD getting more common? A brief history of the ASDs. Consideration of some strongly held views. Early Presenting Features. What sorts of things should give rise to early concerns? Physical checklist. Clinical Disorders seen in the ASDs:; 1. 15q11-q13 duplication.; 2. chromosome 2q37 deletion.; 3. XXY syndrome AKA Klinefelter's syndrome.; 4. XYY syndrome.; 5. 10p terminal deletion.; 6. 45,X/46,XY mosaicism.; 7. 22q13 deletion syndrome AKA Phelan-McDermid syndrome.; 8. Aarskog syndrome AKA Aarskog-Scott syndrome.; 9. Adenylosuccinate lyase (ADSL) deficiency.; 10. Adrenomyeloneuropathy.; 11. Angelman syndrome AKA Happy Puppet syndrome / 'marionette joyeuse' / 'pantin hilare'.; 12. Apert syndrome.; 13. ARX gene mutations.; 14. Autism secondary to autoimmune lymphoproliferative syndrome (ALPS).; 15. Bannayan-Riley-Ruvalcaba syndrome.; 16. Basal cell nevus syndrome.; 17. Biedl-Bardet syndrome. 18. CATCH 22.; 19. Cortical Dysplasia - Focal Epilepsy (CDFE) syndrome.; 20. CHARGE syndrome.; 21. Coffin-Lowry syndrome.; 22. Coffin-Siris syndrome AKA Fifth digit syndrome.; 23. Cohen syndrome AKA Pepper syndrome.; 24. Cole-Hughes macrocephaly syndrome AKA macrocephaly/autism syndrome.; 25. Congenital adrenal hyperplasia.; 26. Cowden syndrome.; 27. De Lange syndrome.; 28. Juvenile dentatorubral-pallidoluysian atrophy.; 29. DiGeorge syndrome I.; 29. DiGeorge syndrome II.; 30. Dihydropyrimidine dehydrogenase (DPYS) de?ciency.; 31. Down syndrome AKA trisomy 21 syndrome.; 32. Dravet's syndrome.; 33. Duchenne's and Becker's muscular dystrophy.; 34. Ehlers-Danlos syndrome.; 35. Fragile X syndrome.; 36. Fragile X permutation (partial methylation defects); 37. GAMT deficiency (guanidinoacetate methyltransferase deficiency).; 38. Goldenhar syndrome.; 39. HEADD syndrome.; 40. L-2-Hydroxyglutaric aciduria.; 41. Hyper IgE syndrome with autism.; 42. Hypomelanosis of Ito.; 43. Hypothyroidism.; 44. Joubert syndrome.; 45. Kleine Levin syndrome.; 46. Lujan-Fryns syndrome.; 47. Myotonic Dystrophy (MD1) AKA Schindler's disease.; 48 2-methylbutyryl-CoA ehydrogenase deficiency.; 49. Moebius syndrome.; 50. Myhre syndrome.; 51. Neurofibromatosis type 1.; 52. Noonan syndrome.; 53. NAPDD.; 54. Ornithine carbamyltransferase deficiency.; 55. Oculocutaneous albinism.; 56. Orstavik 1997 syndrome.; 57. Phenylketonuria.; 58. Pituitary deficiency.; 59. Port-Wine facial staining and autism.; 60. Potocki-Lupski syndrome.; 61. Prader-Willi syndrome AKA Prader-Labhart-Willi syndrome.; 62. Proteus syndrome.; 63a. Rett syndrome.; 63b. Rett syndrome (Hanefeld variant).; 64. Rubinstein-Taybi syndrome.; 65. Schindler disease.; 66. Smith-Lemli-Opitz syndrome.; 67. Smith-Magenis syndrome.; 68. Sotos syndrome.; 69. Succinic semialdehyde dehydrogenase (SSADH) de?ciency.; 70. Timothy syndrome.; 71. Tourette syndrome.; 72. Trichothiodystrophy.; 73. Tuberous sclerosis.; 74. Turner's syndrome.; 75. Unilateral cerebellar hypoplasia syndrome.; 76. Velo-Cardio-Facial syndrome.; 77. Williams syndrome.; 78. Hereditary Xanthinuria type II.; 79. Xeroderma pigmentosa.; 80. X-linked Ichthyosis.; 81. Weaver syndrome.; 82. Simpson-Golabi-Behmel syndrome Type 1.; 83. Hemihyperplasia.; 84. Sturge-Weber syndrome.; 85. PEHO syndrome (Progressive Hypsarrythmia and Optic Atrophy).; 86. Methylenetetrahydrofolate reductase deficiency (+/- homocystinuria).; 87. Alpha-Thalassemia/Mental Retardation syndrome.; 88. Gurrieri syndrome.; 89. Carbohydrate-deficient glycoconjugate syndrome 1A.; 90. Some promising developments. National Autism Support Groups. Relevant Professional Organizations. General Information on Rare Biomedical Conditions. Searching for further Information. Some Relevant Clinical Journals. List of Clinical Conditions. Glossary of Terms. DSM-IV Tr ASD Criteria. ICD-10 ASD Criteria. Bibliography. Index.
independent scholar Aitken outlines why awareness of this research is important, not only for an understanding of causes of ASD, but also for the prescribing of relevant, safe, and effective therapies... Research professionals will appreciate the organization of this material into a useful compendium... this book will help lead the way to more accurate diagnosis and treatment of those with ASD.
