A-Z of Genetic Factors in Autism: A Handbook for Parents and Carers


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Kenneth Aitken
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Acknowledgements. Prelude. Introduction. SECTION A. Focus on the Autistic Spectrumn Disorders. Why might you need a book like this? Does one size fit all as far as help/treatment goes? ASD and 'Inborn Errors of Metabolism'. Biochemical individuality - are we all the same or do we differ? Is ASD getting more common? A brief history of ASD research. Early presenting features of ASDs. Physical checklist of features that can be seen on physical examination and which may have clinical relevance. Genetic clinical conditions linked with autism. SECTION B. Clinical Disorders seen in the Autistic Spectrumn Disorders . 1. 15q11-q13 duplication. 2. Chromosome 2q37 deletion. 3. XXY syndrome. 4. XYY syndrome. 5. 10p terminal deletion. 6. 45,X/46,XY mosaicism. 7. 22q13 deletion syndrome. 8. Aarskog syndrome. 9. Adenylosuccinate lyase (ADSL) deficiency. 10. Adrenomyeloneuropathy. 11. Angelman Syndrome. 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. 23. Cohen Syndrome. 24. Cole-Hughes Macrocephaly Syndrome. 25. Congenital Adrenal Hyperplasia. 26. Cowden Syndrome. 27. de Lange Syndrome. 28. Juvenile Dentatorubral-pallidoluysian Atrophy. 29a. DiGeorge Syndrome I. 29b. DiGeorge syndrome II. 30. Dihydropyrimidine Dehydrogenase (DPYS) De?ciency. 31. Down 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. 2-methylbutyryl-CoA Dehydrogenase Deficiency. 48. Mobius Syndrome. 49. Myhre Syndrome. 50. Myotonic Dystrophy (MD1). 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. 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. Soto's 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. SECTION C. 81. Some Promising Developments. 1.Mitochondrial Defects. 2.Gene Markers. 3.Potential Correction of Nonsense Mutations. 4.Differences in the Gastrin-Releasing Peptide Receptor (GRPR) Gene. 5. Differences in Glutamate Mechanisms and Metabolism. 6.Differences in Oxytocin and Vasopressin. 7.Ghrelin Differences. 8.Ciliopathies. 9.Aquaporins. SECTION D. Appendix I: National Autism Support Groups. Appendix II: Relevant Professional Organizations. Appendix III: Some General Autism Information Websites. Appendix IV: Organization and Charities Dealing with and Funding Research on Related Conditions. Appendix V: Some Relevant Professional Organizations. Appendix VI: General Information on Rare Biomedical Conditions. Appendix VII: Searching for Further Information. Appendix VIII: Relevant Clinical Journals. Appendix IX: List of Clinical Conditions. Appendix X: Further Genetic Information and Suppot. Glossary of Terms. References.

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