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An A-Z of Genetic Factors in Autism A Handbook for Parents and Carers Kenneth J. Aitken

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The concept of a single condition known as 'autism' is quickly becoming outdated, and is now understood to be an umbrella term for a variety of predominantly genetic conditions. This can be confusing for parents of children who have been diagnosed as having an 'autism spectrum disorder'.

An A-Z of Genetic Factors in Autism provides parents with a complete overview of the main genetic disorders associated with autism, including those linked to growth differences, cardiovascular issues, neurodevelopmental problems, immune dysfunction, gastrointestinal disturbances and epilepsy. Kenneth Aitken demystifies the umbrella term 'autism' by alphabetically listing these conditions along with information about how common they are, their causes, signs, and symptoms, and for many, appropriate methods of treatment and management. Information on support groups and sources of further information are also included to help parents obtain any additional support they need, and keep up to date with new developments in research and practice.

This is a must-have book for any parent or carer who feels confused by their child's diagnosis, or who seeks a better understanding of the many genetic conditions linked to autism.

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"Personally I don't believe we should be waiting on the Holy Grail of a wonder treatment for everyone with ASD, however appealing this may seem to some. Some people with ASD symptomology neither need treatment nor want it."

'Any parent confused by their child's diagnosis will find this a thorough coverage of the many genetic conditions associated with autism.'

- California Bookwatch

'An A-Z of Genetic Factors in Autism by Kenneth J. Aitken is a book that somewhat uniquely focuses on the differences in ASDs. This is a fresh and logical approach which is far more likely to lead to useful information. By understanding each individual and providing what they need, rather than the one size fits all approach, relevant help can be targeted in the right direction... I would recommend this book to an educated reader with a science background wishing to learn more about the aetiology of ASDs. It is thoroughly researched and Aitken has somehow organised a huge body of research into clear, logical and relevant sections. It requires a huge amount of attention and persistence but will reward the reader for their time and effort. I am not aware of anything on the market that is quite so informative and accessible, extensively covering most of the research and theories in the field... I hope this book becomes required reading.'


'The entire volume is laid out with an excellent mix of scientific meticulousness and user-friendly introductions, appendices, and glossaries. Aitken has provided something of a template for modern medical books. This book is recommended for anybody who may have to deal with ASDs in their life, such as teachers, parents, or even those diagnosed themselves. It doesn't gloss over any of the complexity, instead helping the reader to work through the complexities themselves, and in this way it is tremendously empowering.'

- ForeWord Reviews

'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. Included is an encyclopedic presentation of 89 conditions with a genetic link or similarity to ASD. In each case, the specific genetic loci, the main clinical features of the disorder and its incidence, and recommended management and treatment are given. Research professionals will appreciate the organization of this material into a useful compendium, and clinical professionals will be made aware of why one size does not fit all when it comes to treatment. Ideally, this book will help lead the way to more accurate diagnosis and treatment of those with ASD; however, it also points out the current lag between what is known and what is used in the clinical setting.'

- K.M. Dillon, emerita, Western New England College

'A-Z of Genetic Factors in Autism provides patients and caregivers with a complete overview of the main genetic conditions associated with autism, including those linked to different diseases and system dysfunctions. It alphabetically lists these conditions here, along with details on causes, signs, and different methods of management, and provides information on support groups for parents who need additional support. Any parent confused by their child's diagnosis will find this a thorough coverage of the many genetic conditions associated with autism.'

-The Midwest Book Review

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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