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An A-Z of Genetic Factors in Autism A Handbook for Professionals

Kenneth. Aitken

London : Jessica Kingsley Publishers 2011

Online access

  • Title:
    An A-Z of Genetic Factors in Autism A Handbook for Professionals
  • Author: Kenneth. Aitken
  • Subjects: Autism in children; Autism in children; Autism spectrum disorders; Autism spectrum disorders; Autistic Disorder - complications; Autistic Disorder -- complications; Autistic Disorder - genetics; Autistic Disorder -- genetics; Autistic Disorder - therapy; Autistic Disorder -- therapy; Genetic Diseases, Inborn - complications; Genetic Diseases, Inborn -- complications; Mental illness - Genetic aspects; Mental illness -- Genetic aspects; Autism in children -- Genetic aspects; Autism spectrum disorders; Mental illness; Child Development Disorders, Pervasive; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Biology; Mental Disorders Diagnosed in Childhood; Biological Science Disciplines; Diseases; Natural Science Disciplines; Mental Disorders; Psychiatry and Psychology; Disciplines and Occupations; Autistic Disorder; Genetic Diseases, Inborn; Genetics; Medicine; Health & Biological Sciences; Pediatrics; Electronic books
  • Contents: An A-Z of Genetic Factors in Autism: A Handbook for Professionals; Acknowledgements; Prelude; Introduction; Section A: Focus on the Autistic Spectrum Disorders; What is the purpose of a book like this?; The Need for Biologically Focused Interventions; ASD and 'inborn errors of Metabolism'; Biochemical Individuality: The Importance of biological differences in clinically heterogenous populations; Is ASD getting more common?; A Brief History of Research on ASD; Consideration of some strongly held views; Early presenting features and risk factors; Physical Differences
    Abnormal glutamate metabolismAbnormal sterol metabolism; Anxiety, overrarousal, self-injury, aggression, sleep and beh; Cancer risk; Cardiac abnormalities; Connective tissue disorders; 'Cupid's bow' upper lip (aka 'Mobius mouth'); Enlarged head circumference; Facial asymmetries (hemifacial microsomia); Gastrointestinal disturbance; General physical overgrowth; Immune dysfunction; Methylmalonic acidaemia, vitamin B12 (methylcobalamin) and cobalt levels; Muscular involvement; Obesity; Seizures, fits and epilepsy; Palatal abnormalities; Skin pigmentation differences
    Thumb adduction, external ear rotation, upper limb malformation and 6th and 7th cranial nerve abnormalitiesVitamin B6 and magnesium; Genetic Conditions Seen in the ASDs; Section B: Genetic Conditions Seen in the Autistic Spectrum 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 (AMN); 11. Angelman syndrome (AS); 12. Apert syndrome; 13.ARX gene mutations
    14. Autism secondary to autoimmune lymphoproliferative syndrome (ALPS)15. Bannayan-Riley-Ruvalcaba syndrome; 16. Basal cell naevus syndrome (BCNS); 17. Biedl-Bardet syndrome (BBS); 18. CATCH22; 19. Cortical Dysplasia-Focal Epilepsy (CDFE) syndrome; 20. CHARGE syndrome; 21. Coffin-Lowry syndrome (CLS); 22. Coffin-Siris syndrome; 23. Cohen syndrome; 24. Cole-Hughes macrocephaly syndrome (CHMS); 25. Congenital adrenal hyperplasia (CAH); 26.Cowden syndrome (CS); 27. de Lange syndrome (CdLS); 28.Juvenile dentatorubral-pallidoluysian atrophy (JDPLA); 29a. DiGeorge syndrome I (DGS I)
    29b. DiGeorge syndromeII (DGS II)30.Dihydropyrimidine dehydrogenase (DPYS) deficiency; 31. Down syndrome (DS); 32. Dravet's syndrome; 33. Duchenne (DMD) and Becker (BMD) muscular dystrophy; 34. Ehlers-Danlos syndrome (EDS); 35. Fragile-X syndrome; 36. Fragile-X permutation (partial methylation defects); 37. GAMT deficiency (guanidinoacetate methyltransferase deficiency); 38. Goldenhar syndrome; 39. HEADD syndrome (Hypotonia, Epilepsy, Autism and Developmental Delay); 40. L-2-hydroxyglutaric aciduria (L-2 HGAA); 41. Hyper IgE syndrome with autism (HiES); 42. Hypomelanosis of Ito (HI)
    43. Hypothyroidism
    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. ;Description based upon print version of record.
  • Publisher: London : Jessica Kingsley Publishers
  • Creation Date: 2011
  • Physical Description: 1 online resource (546 p.).
  • Language: English
  • Identifier: ISBN1-283-90530-2;ISBN0-85700-490-5
  • Source: 01GALI USG ALMA
  • OCLC Number: 711747265
  • NZ MMS ID: 9913735762402931

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