Kenneth Aitken

An A-Z of Genetic Factors in Autism

A Handbook for Professionals

• Gebundenes Buch

Produktbeschreibung

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.

Produktdetails

• Verlag: Jessica Kingsley Publishers
• Seitenzahl: 496
• Erscheinungstermin: 15. November 2010
• Englisch
• Abmessung: 254mm x 196mm x 43mm
• Gewicht: 1238g
• ISBN-13: 9781843109761
• ISBN-10: 184310976X
• Artikelnr.: 26217815

Autorenporträt

Kenneth J. Aitken is a practising clinical psychologist based in Edinburgh, Scotland. He is active among many charitable organisations and research initiatives dedicated to building a better understanding of autism spectrum disorders and related conditions. Kenneth has published numerous academic and popular articles on ASD and is the author of Dietary Interventions in Autism Spectrum Disorders; A-Z of Genetic Factors in Autism: A Guide for Parents and Carers, and co-author of Children with Autism: Diagnosis and Intervention to Meet Their Needs (2nd Ed.), all published by Jessica Kingsley Publishers.

Inhaltsangabe

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.