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El. knyga: A-Z of Genetic Factors in Autism: A Handbook for Parents and Carers

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  • Formatas: PDF+DRM
  • Išleidimo metai: 15-Jan-2011
  • Leidėjas: Jessica Kingsley Publishers
  • Kalba: eng
  • ISBN-13: 9780857003881
Kitos knygos pagal šią temą:
A-Z of Genetic Factors in Autism: A Handbook for Parents and CarersDidesnis paveikslėlis
  • Formatas: PDF+DRM
  • Išleidimo metai: 15-Jan-2011
  • Leidėjas: Jessica Kingsley Publishers
  • Kalba: eng
  • ISBN-13: 9780857003881
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Our understanding of the biological bases to the autistic spectrum disorders (ASDs) is advancing rapidly. Over 80 genetic conditions have now been reported in people who have also been diagnosed with ASDs. Many of these conditions have specific implications for the presenting phenotype and for treatment, management, and intervention. If the basis to the presenting behavioural phenotype is not identified, this can result in a sub-optimal level of care, complications, or even permanent damage.

Kenneth J. Aitken shows that the notion of a single condition known as 'autism' is no longer tenable, and challenges current trends in the diagnosis and management of these behaviours as a homogenous group by drawing on recent research into brain function, genetics, epidemiology and neurology. 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.

An A-Z of Genetic Factors in Autism is an essential resource for a wide range of researchers, clinical professionals and students interested in autism spectrum disorders, including clinical and educational psychologists, dieticians, psychiatrists, and neurologists.

Recenzijos

independent scholar Aitken outlines why awareness of this research is important, not only for an understanding of causes of ASD, but also for the prescribing of relevant, safe, and effective therapies... Research professionals will appreciate the organization of this material into a useful compendium... this book will help lead the way to more accurate diagnosis and treatment of those with ASD. -- CHOICE Magazine

Daugiau informacijos

A comprehensive summary of the genetics of ASD, including the links to diagnosis and treatment.
Acknowledgements 13(2)
Prelude 15(4)
Introduction 19(10)
SECTION A Focus on the Autistic Spectrum Disorders
29(76)
What is the purpose of a book like this?
31(4)
The need for biologically focused interventions
35(7)
ASD and `inborn errors of metabolism'
42(2)
Biochemical individuality: The importance of biological differences in clinically heterogenous populations
44(7)
Is ASD getting more common?
51(2)
A brief history of research on ASD
53(3)
Consideration of some strongly held views
56(9)
Early presenting features and risk factors
65(7)
Physical differences
72(29)
Abnormal glutamate metabolism
72(2)
Abnormal sterol metabolism
74(2)
Anxiety, overrarousal, self-injury, aggression, sleep and behaviour problems
76(4)
Cancer risk
80(1)
Cardiac abnormalities
80(1)
Connective tissue disorders
81(1)
`Cupid's bow' upper lip (aka `Mobius mouth')
81(1)
Enlarged head circumference
81(1)
Facial asymmetries (hemifacial microsomia)
82(1)
Gastrointestinal disturbance
82(3)
General physical overgrowth
85(1)
Immune dysfunction
86(2)
Methylmalonic acidaemia, vitamin B12 (methylcobalamin) and cobalt levels
88(3)
Muscular involvement
91(1)
Obesity
91(1)
Palatal abnormalities
92(1)
Seizures, fits and epilepsy
92(5)
Skin pigmentation differences
97(2)
Thumb adduction, external ear rotation, upper limb malformation and 6th and 7th cranial nerve abnormalities
99(1)
Vitamin B6 and magnesium
99(2)
Genetic conditions seen in the ASDs
101(4)
SECTION B Genetic Conditions Seen in the Autistic Spectrum Disorders
105(260)
1 15q11-q13 duplication
107(1)
2 Chromosome 2q37 deletion
108(1)
3 XXY syndrome
109(2)
4 XYY syndrome
111(2)
5 10p terminal deletion
113(1)
6 45,X/46,XY mosaicism
114(1)
7 22q13 deletion syndrome
115(4)
8 Aarskog syndrome
119(1)
9 Adenylosuccinate Iyase (ADSL) deficiency
119(3)
10 Adrenomyeloneuropathy (AMN)
122(2)
11 Angelman syndrome (AS)
124(8)
12 Apert syndrome
132(3)
13 ARX gene mutations
135(3)
14 Autism secondary to autoimmune lymphoproliferative syndrome (ALPS)
138(3)
15 Bannayan-Riley-Ruvalcaba syndrome
141(2)
16 Basal cell naevus syndrome (BCNS)
143(3)
17 Biedl-Bardet syndrome (BBS)
146(4)
18 CATCH22
150(4)
19 Cortical Dysplasia-Focal Epilepsy (CDFE) syndrome
154(2)
20 CHARGE syndrome
156(4)
21 Coffin-Lowry syndrome (CLS)
160(2)
22 Coffin-Siris syndrome
162(2)
23 Cohen syndrome
164(2)
24 Cole-Hughes macrocephaly syndrome (CHMS)
166(1)
25 Congenital adrenal hyperplasia (CAH)
167(3)
26 Cowden syndrome (CS)
170(2)
27 De Lange syndrome (CdLS)
172(5)
28 Juvenile dentatorubral-pallidoluysian atrophy (JDPLA)
177(3)
29a DiGeorge syndrome I (DGS I)
180(6)
29b DiGeorge syndrome II (DGS II)
186(1)
30 Dihydropyrimidine dehydrogenase (DPYS) deficiency
187(3)
31 Down syndrome (DS)
190(12)
32 Dravet's syndrome
202(3)
33 Duchenne (DMD) and Becker (BMD) muscular dystrophy
205(8)
34 Ehlers-Danlos syndrome (EDS)
213(3)
35 Fragile-X syndrome
216(15)
36 Fragile-X permutation (partial methylation defects)
231(1)
37 GAMT deficiency (guanidinoacetate methyltransferase deficiency)
231(4)
38 Goldenhar syndrome
235(6)
39 HEADD syndrome (Hypotonia, Epilepsy, Autism and Developmental Delay)
241(1)
40 L-2-hydroxyglutaric aciduria (L-2 HGAA)
242(2)
41 Hyper IgE syndrome with autism (HIES)
244(2)
42 Hypomelanosis of Ito (HI)
246(2)
43 Hypothyroidism
248(2)
44 Joubert syndrome
250(8)
45 Kleine-Levin syndrome
258(1)
46 Lujan-Fryns syndrome
259(2)
47 2-methylbutyryl-CoA dehydrogenase deficiency
261(1)
48 Mobius syndrome
262(4)
49 Myhre syndrome
266(1)
50 Myotonic dystrophy type 1 (MD 1)
267(3)
51 Neurofibromatosis type 1 (NF 1)
270(8)
52 Noonan syndrome
278(2)
53 NAPDD
280(1)
54 Ornithine carbamyltransferase deficiency (OCTD)
281(1)
55 Oculocutaneous albinism (OCA)
282(2)
56 Orstavik 1997 syndrome
284(1)
57 Phenylketonuria (PKU)
285(11)
58 Pituitary deficiency
296(1)
59 Port-wine facial staining and autism
297(1)
60 Potocki-Lupski syndrome (PTLS)
298(2)
61 Prader-Willi syndrome (PWS)
300(4)
62 Proteus syndrome
304(1)
63a Rett syndrome (RTT)
305(6)
63b Rett syndrome (Hanefeld variant) (RSHV)
311(2)
64 Rubinstein-Taybi syndrome
313(2)
65 Schindler disease
315(1)
66 Smith-Lemli-Opitz syndrome (SLOS)
316(6)
67 Smith-Magenis syndrome (SMS)
322(4)
68 Sotos syndrome
326(2)
69 Succinic semialdehyde dehydrogenase (SSADH) deficiency
328(4)
70 Timothy syndrome
332(2)
71 Tourette syndrome
334(5)
72 Trichothiodystrophy (TTD)
339(3)
73 Tuberous sclerosis complex (TSC)
342(5)
74 Turner syndrome
347(2)
75 Unilateral cerebellar hypoplasia syndrome
349(1)
76 Velocardiofacial syndrome (VCFS)
350(1)
77 Williams syndrome (WS)
351(9)
78 Hereditary xanthinuria type II
360(1)
79 Xeroderma pigmentosa (complementation group C)
361(1)
80 X-linked ichthyosis (XLI)
362(3)
SECTION C Some Conditions with Similarities to ASD
365(18)
81 Alpha-thalassaemia/mental retardation syndrome, nondeletion type, X-linked (ATRX)
367(3)
82 Carbohydrate-deficient glycoconjugate syndrome, Type 1a (CDG1A)
370(1)
83 Gurrieri syndrome
370(1)
84 Hemihyperplasia
371(1)
85 Methylenetetrahydrofolate reductase (MTHFR) deficiency (+/- homocystinuria)
372(4)
86 PEHO syndrome (progressive encephalopathy with oedema, hypsarrythmia and optic atrophy
376(1)
87 Simpson-Golabi-behmel syndrome type 1 (SGBS1)
377(2)
88 Sturge-Weber syndrome
379(1)
89 Weaver syndrome
380(3)
SECTION D Some Promising Recent Developments in ASD Research
383(18)
1 Mitochondrial defects
385(1)
2 Gene markers
386(9)
3 Potential correction of `nonsense' mutations
395(1)
4 Differences in the gastrin-releasing peptide receptor (GRPR) gene
396(1)
5 Differences in glutamate mechanisms and metabolism
397(1)
6 Differences in oxytocin
398(1)
7 Ghrelin differences
398(1)
8 Ciliopathies
399(1)
9 Aquaporins
399(2)
SECTION E Appendices
401(11)
Appendix A Information and Support
403(7)
1 Genetic Information and support
403(1)
2 Sites providing information on particular aspects of ASD
404(1)
3 Autism research charities
405(1)
4 Some relevant organizations and charities dealing with and funding research on related conditions
405(1)
5 Some relevant professional organizations
406(1)
6 General information on rare biomedical conditions
407(1)
7 Searching for further information
408(1)
8 Some clinical and academic journals relevant to neurobiological issues in ASD
409(1)
Appendix B Further Reading
410(2)
References 412(114)
Index 526
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.
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