LEADER 05270nam 2200649Ia 450 001 9910667051603321 005 20200520144314.0 010 $a1-283-90676-7 010 $a0-85700-388-7 035 $a(CKB)2560000000070427 035 $a(EBL)677659 035 $a(OCoLC)711747264 035 $a(SSID)ssj0000467122 035 $a(PQKBManifestationID)11314227 035 $a(PQKBTitleCode)TC0000467122 035 $a(PQKBWorkID)10465942 035 $a(PQKB)11071749 035 $a(MiAaPQ)EBC677659 035 $a(Au-PeEL)EBL677659 035 $a(CaPaEBR)ebr10446974 035 $a(CaONFJC)MIL421926 035 $a(EXLCZ)992560000000070427 100 $a20100104d2010 uy 0 101 0 $aeng 135 $aurcn||||||||| 181 $ctxt 182 $cc 183 $acr 200 13$aAn A-Z of genetic factors in autism$b[electronic resource] $eA handbook for parents and carers /$fKenneth J. Aitken 210 $aLondon ;$aPhiladelphia $cJessica Kingsley Publishers$d2010 215 $a1 online resource (498 p.) 300 $aDescription based upon print version of record. 311 $a1-84310-679-5 320 $aIncludes bibliographical references (p. 426-494). 327 $aAn A-Z of Genetic Factors in Autism: A Handbook for Parents and Carers; Acknowledgements; Prelude; Introduction; SECTION A: Focus on the autistic spectrum disorders; Why you might need a book like this; Help and treatment: does one size fit all?; ASD and 'inborn errors of metabolism'; Biochemical individuality: are we all the same?; 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; Further clinical aspects that may require investigation 327 $aGenetic clinical conditions linked with autism 'Alternative' approaches; SECTION B: Clinical disorders 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 (BRRS) 327 $a16. Basal cell naevus syndrome (BCNS)17. Biedl-Bardet syndrome (BBS); 18. CATCH 22; 19. Cortical dysplasia-focal epilepsy (CDFE) syndrome; 20. CHARGE syndrome; 21. Coffin-Lowry syndrome (CLS); 22. Coffin-Siris syndrome (CSS); 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 (phenotypic overlap); 29b. DiGeorge syndrome II (DGS II); 30. Dihydropyrimidine dehydrogenase (DPYS) deficiency 327 $a31. Down syndrome (DS)32. Dravet's syndrome; 33. Duchenne (DMD) and Becker (BMD) muscular dystrophy; 34. Ehlers-Danlos syndrome (EDS); 35. Fragile-X syndrome (FRAX); 36. Fragile-X permutation (partial methylation defects); 37. GAMT deficiency (guanidinoacetate methyltransferase deficiency); 38. Goldenhar syndrome; 39. HEADD syndrome; 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 327 $a48. Mobius/Mo?bius/Moebius syndrome 49. Myhre syndrome; 50. Myotonic dystrophy (MD1); 51. Neurofibromatosis type 1 (NF1); 52. Noonan syndrome (NS); 53. NAPDD; 54. Oculocutaneous albinism (OCA); 55. Ornithine carbamyltransferase deficiency (OCTD); 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 327 $a66. Smith-Lemli-Opitz syndrome (SLOS) 330 $aThe 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. 606 $aAutism in children$vPopular works 606 $aAutism spectrum disorders$vPopular works 606 $aMental illness$xGenetic aspects$vPopular works 608 $aElectronic books. 615 0$aAutism in children 615 0$aAutism spectrum disorders 615 0$aMental illness$xGenetic aspects 676 $a618.92/85882 700 $aAitken$b Kenneth J$01170867 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910667051603321 996 $aAn A-Z of genetic factors in autism$92725571 997 $aUNINA