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The Resource An A-Z of genetic factors in autism : a handbook for professionals, Kenneth J. Aitken

An A-Z of genetic factors in autism : a handbook for professionals, Kenneth J. Aitken

Label
An A-Z of genetic factors in autism : a handbook for professionals
Title
An A-Z of genetic factors in autism
Title remainder
a handbook for professionals
Statement of responsibility
Kenneth J. Aitken
Creator
Subject
Language
eng
Cataloging source
DNLM/DLC
http://library.link/vocab/creatorName
Aitken, Kenneth J
Index
index present
Literary form
non fiction
Nature of contents
bibliography
http://library.link/vocab/subjectName
  • Autism in children
  • Autism spectrum disorders
  • Mental illness
  • Autistic Disorder
  • Autistic Disorder
  • Autistic Disorder
  • Genetic Diseases, Inborn
Label
An A-Z of genetic factors in autism : a handbook for professionals, Kenneth J. Aitken
Instantiates
Publication
Bibliography note
Includes bibliographical references and index
Contents
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 ìnborn 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 metabolism -- Abnormal sterol metabolism -- Anxiety, overrarousal, self-injury, aggression, sleep and behaviour problems -- 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 -- Palatal abnormalities -- Seizures, fits and epilepsy -- Skin pigmentation differences -- Thumb adduction, external ear rotation, upper limb malformation and 6th and 7th cranial nerve abnormalities -- Vitamin 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 Iyase (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 syndrome II (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 -- 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 type 1 (MD 1) -- 51. Neurofibromatosis type 1 (NF 1) -- 52. Noonan syndrome -- 53. NAPDD -- 54. Ornithine carbamyltransferase deficiency (OCTD) -- 55. Oculocutaneous albinism (OCA) -- 56. Orstavik 1997 syndrome -- 57. Phenylketonuria (PKU) -- 58. Pituitary deficiency -- 59. Port-wine facial staining and autism -- 60. Potocki-Lupski syndrome (PTLS) -- 61. Prader-Willi syndrome (PWS) -- 62. Proteus syndrome -- 63a. Rett syndrome (RTT) -- 63b. Rett syndrome (Hanefeld variant) (RSHV) -- 64. Rubinstein-Taybi syndrome -- 65. Schindler disease -- 66. Smith-Lemli-Opitz syndrome (SLOS) -- 67. Smith-Magenis syndrome (SMS) -- 68. Sotos syndrome -- 69. Succinic semialdehyde dehydrogenase (SSADH) deficiency -- 70. Timothy syndrome -- 71. Tourette syndrome -- 72. Trichothiodystrophy (TTD) -- 73. Tuberous sclerosis complex (TSC) -- 74. Turner syndrome -- 75. Unilateral cerebellar hypoplasia syndrome -- 76. Velocardiofacial syndrome (VCFS) -- 77. Williams syndrome (WS) -- 78. Hereditary xanthinuria type II -- 79. Xeroderma pigmentosa (complementation group C) -- 80. X-linked ichthyosis (XLI) -- SECTION C Some Conditions with Similarities to ASD -- 81. Alpha-thalassaemia/mental retardation syndrome, nondeletion type, X-linked (ATRX) -- 82. Carbohydrate-deficient glycoconjugate syndrome, Type 1a (CDG1A) -- 83. Gurrieri syndrome -- 84. Hemihyperplasia -- 85. Methylenetetrahydrofolate reductase (MTHFR) deficiency (+/- homocystinuria) -- 86. PEHO syndrome (progressive encephalopathy with oedema, hypsarrythmia and optic atrophy -- 87. Simpson-Golabi-behmel syndrome type 1 (SGBS1) -- 88. Sturge-Weber syndrome -- 89. Weaver syndrome -- SECTION D Some Promising Recent Developments in ASD Research -- 1. Mitochondrial defects -- 2. Gene markers -- 3. Potential correction of ǹonsense' mutations -- 4. Differences in the gastrin-releasing peptide receptor (GRPR) gene -- 5. Differences in glutamate mechanisms and metabolism -- 6. Differences in oxytocin -- 7. Ghrelin differences -- 8. Ciliopathies -- 9. Aquaporins -- SECTION E Appendices -- Appendix A Information and Support -- 1. Genetic Information and support -- 2. Sites providing information on particular aspects of ASD -- 3. Autism research charities -- 4. Some relevant organizations and charities dealing with and funding research on related conditions -- 5. Some relevant professional organizations -- 6. General information on rare biomedical conditions -- 7. Searching for further information -- 8. Some clinical and academic journals relevant to neurobiological issues in ASD -- Appendix B Further Reading
Control code
ocn607319084
Dimensions
26 cm
Extent
542 p.
Isbn
9781843109761
Isbn Type
(alk. paper)
Lccn
2010012797
System control number
(OCoLC)607319084
Label
An A-Z of genetic factors in autism : a handbook for professionals, Kenneth J. Aitken
Publication
Bibliography note
Includes bibliographical references and index
Contents
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 ìnborn 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 metabolism -- Abnormal sterol metabolism -- Anxiety, overrarousal, self-injury, aggression, sleep and behaviour problems -- 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 -- Palatal abnormalities -- Seizures, fits and epilepsy -- Skin pigmentation differences -- Thumb adduction, external ear rotation, upper limb malformation and 6th and 7th cranial nerve abnormalities -- Vitamin 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 Iyase (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 syndrome II (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 -- 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 type 1 (MD 1) -- 51. Neurofibromatosis type 1 (NF 1) -- 52. Noonan syndrome -- 53. NAPDD -- 54. Ornithine carbamyltransferase deficiency (OCTD) -- 55. Oculocutaneous albinism (OCA) -- 56. Orstavik 1997 syndrome -- 57. Phenylketonuria (PKU) -- 58. Pituitary deficiency -- 59. Port-wine facial staining and autism -- 60. Potocki-Lupski syndrome (PTLS) -- 61. Prader-Willi syndrome (PWS) -- 62. Proteus syndrome -- 63a. Rett syndrome (RTT) -- 63b. Rett syndrome (Hanefeld variant) (RSHV) -- 64. Rubinstein-Taybi syndrome -- 65. Schindler disease -- 66. Smith-Lemli-Opitz syndrome (SLOS) -- 67. Smith-Magenis syndrome (SMS) -- 68. Sotos syndrome -- 69. Succinic semialdehyde dehydrogenase (SSADH) deficiency -- 70. Timothy syndrome -- 71. Tourette syndrome -- 72. Trichothiodystrophy (TTD) -- 73. Tuberous sclerosis complex (TSC) -- 74. Turner syndrome -- 75. Unilateral cerebellar hypoplasia syndrome -- 76. Velocardiofacial syndrome (VCFS) -- 77. Williams syndrome (WS) -- 78. Hereditary xanthinuria type II -- 79. Xeroderma pigmentosa (complementation group C) -- 80. X-linked ichthyosis (XLI) -- SECTION C Some Conditions with Similarities to ASD -- 81. Alpha-thalassaemia/mental retardation syndrome, nondeletion type, X-linked (ATRX) -- 82. Carbohydrate-deficient glycoconjugate syndrome, Type 1a (CDG1A) -- 83. Gurrieri syndrome -- 84. Hemihyperplasia -- 85. Methylenetetrahydrofolate reductase (MTHFR) deficiency (+/- homocystinuria) -- 86. PEHO syndrome (progressive encephalopathy with oedema, hypsarrythmia and optic atrophy -- 87. Simpson-Golabi-behmel syndrome type 1 (SGBS1) -- 88. Sturge-Weber syndrome -- 89. Weaver syndrome -- SECTION D Some Promising Recent Developments in ASD Research -- 1. Mitochondrial defects -- 2. Gene markers -- 3. Potential correction of ǹonsense' mutations -- 4. Differences in the gastrin-releasing peptide receptor (GRPR) gene -- 5. Differences in glutamate mechanisms and metabolism -- 6. Differences in oxytocin -- 7. Ghrelin differences -- 8. Ciliopathies -- 9. Aquaporins -- SECTION E Appendices -- Appendix A Information and Support -- 1. Genetic Information and support -- 2. Sites providing information on particular aspects of ASD -- 3. Autism research charities -- 4. Some relevant organizations and charities dealing with and funding research on related conditions -- 5. Some relevant professional organizations -- 6. General information on rare biomedical conditions -- 7. Searching for further information -- 8. Some clinical and academic journals relevant to neurobiological issues in ASD -- Appendix B Further Reading
Control code
ocn607319084
Dimensions
26 cm
Extent
542 p.
Isbn
9781843109761
Isbn Type
(alk. paper)
Lccn
2010012797
System control number
(OCoLC)607319084

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      -36.733330 174.700641
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