Kenneth Aitken
An A-Z of Genetic Factors in Autism: A Handbook for Parents and Carers
Kenneth Aitken
An A-Z of Genetic Factors in Autism: A Handbook for Parents and Carers
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The book covers the main genetic disorders associated with autism, including those linked to growth differences, neurodevelopmental problems, gastrointestinal disturbances epilepsy and many others. It alphabetically lists the conditions next to information about how common they are, causes, signs, symptoms, and methods of treatment and management.
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The book covers the main genetic disorders associated with autism, including those linked to growth differences, neurodevelopmental problems, gastrointestinal disturbances epilepsy and many others. It alphabetically lists the conditions next to information about how common they are, causes, signs, symptoms, and methods of treatment and management.
Produktdetails
- Produktdetails
- Verlag: Jessica Kingsley Publishers
- Seitenzahl: 496
- Erscheinungstermin: Mai 2010
- Englisch
- Abmessung: 244mm x 173mm x 28mm
- Gewicht: 798g
- ISBN-13: 9781843106791
- ISBN-10: 1843106795
- Artikelnr.: 25540006
- Verlag: Jessica Kingsley Publishers
- Seitenzahl: 496
- Erscheinungstermin: Mai 2010
- Englisch
- Abmessung: 244mm x 173mm x 28mm
- Gewicht: 798g
- ISBN-13: 9781843106791
- ISBN-10: 1843106795
- Artikelnr.: 25540006
Kenneth Aitken is a practising clinical psychologist and an independent autism consultant based in Edinburgh, UK. He is active among many charitable organisations and research initiatives dedicated to building a better understanding of autism spectrum disorders and related conditions. Kenneth is also the author of Dietary Interventions in Autism Spectrum Disorders and the co-author of Children with Autism: Diagnosis and Intervention to Meet Their Needs, both published by Jessica Kingsley Publishers.
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.
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.
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.
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.