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An A-Z of Genetic Factors in Autism A Handbook for Professionals Kenneth J. Aitken

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Our understanding of the biological bases to the autistic spectrum disorders (ASDs) is advancing rapidly. Over 80 genetic conditions have now been reported in people who have also been diagnosed with ASDs. Many of these conditions have specific implications for the presenting phenotype and for treatment, management, and intervention. If the basis to the presenting behavioural phenotype is not identified, this 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, and challenges current trends in the diagnosis and management of these behaviours as a homogenous group by drawing on recent research into brain function, genetics, epidemiology and neurology. This volume explains the biology and genetics of ASD, and provides clinicians and researchers with a comprehensive summary of each genetic factor including the research that links it to ASD, diagnosis and treatment issues, and related animal models, as well as detailing relevant professional organisations and avenues for further research.

An A-Z of Genetic Factors in Autism is an essential resource for a wide range of researchers, clinical professionals and students interested in autism spectrum disorders, including clinical and educational psychologists, dieticians, psychiatrists, and neurologists.

Prelude. Acknowledgements. Introduction. List of Tables. List of Figures. SECTION A. Why you might 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: That autism is one thing; That autism is psychogenic in origin; That autism is outside the area of interest, knowledge and expertise of specialties other than psychiatry; That biological factors do not contribute to its genesis nor to its development. That autism is largely an interest of child psychiatry, and of limited interest to adult services. Early Presenting Features. What sorts of things should give rise to early concerns? Parental age; Parental health; The At-Risk Pregnancy; The at-risk infant. Physical Checklist. Increased Head Circumference; General physical overgrowth; Obesity; Skin Pigmentation differences; Café-au-lait spots (Skin hyperpigmentation); 'Mongolian' spots: 'Chicken skin'; Other skin differences; 'Cupid's Bow' shape to upper lip (AKA 'Mobius mouth'); Thumb adduction, External ear rotation, Upper limb malformation and 6th and 7th Cranial Nerve abnormalities; Muscular Involvement; Hemifacial microsomia. Immune Dysfunction. Gastrointestinal Disturbance. Seizures, Fits and Epilepsy. Anxiety, Overrarousal, Self-Injury, Aggression, Sleep and Behaviour Problems. Abnormal Sterol Metabolism. Methylmalonic Acidaemia. Abnormal Glutamate Metabolism. Vitamin B6 and Magnesium. SECTION B. Clinical Disorders seen in the ASDs. 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) deficiency . 31. Down syndrome. 32. Dravet's syndrome. 33. Duchenne and Becker 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. Sotos syndrome. 69. Succinic semialdehyde dehydrogenase (SSADH) de?ciency. 70. Timothy syndrome. 71. Tourette syndrome. 72. Trichothiodystrophy. 73. Tuberous sclerosis. 74. Turner syndrome. 75. Unilateral cerebellar hypoplasia syndrome. 76. Velocardiofacial syndrome. 77. Williams syndrome. 78. Hereditary Xanthinuria type II. 79. Xeroderma pigmentosa. 80. X-linked Ichthyosis. SECTION C. Some Similar Conditions. 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, Nondeletion type. 88. Gurrieri syndrome. 89. Carbohydrate-deficient glycoconjugate syndrome 1A. SECTION D. 90. Some Promising Developments. a) Mitochondrial defects. b) Gene markers. c) Potential correction of nonsense mutations. d) Differences in the Gastrin-Releasing Peptide Receptor (GRPR) Gene. e) Differences in glutamate mechanisms and metabolism. f) Differences in Oxytocin and Vasopressin. g) Ghrelin differences. h) Ciliopathies. i) Aquaporins. SECTION E. Appendices. i) Further Genetic Information and supprt: ii) Sites provide information on particular aspects of ASD; iii) Autism Research Charities; iv) Relevant organizations and charities. v) Relevant Professional Organizations. vi) General Information on Rare Biomedical Conditions. vii) Searching for further Information. viii) Some Relevant Clinical Journals. Bibliography. Index.

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