
Contents
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Genetic, Medical, and Metabolic Disorders with a High Frequency of Autism Genetic, Medical, and Metabolic Disorders with a High Frequency of Autism
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Angelman Syndrome Angelman Syndrome
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Charge Association or Charge Syndrome Charge Association or Charge Syndrome
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Cornelia de Lange Syndrome Cornelia de Lange Syndrome
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Di George Syndrome (Velo-cardio-facial Syndrome, 22q11 Deletion Syndrome) Di George Syndrome (Velo-cardio-facial Syndrome, 22q11 Deletion Syndrome)
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Fragile X Syndrome and Fragile X Premutation Syndrome Fragile X Syndrome and Fragile X Premutation Syndrome
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Hypomelanosis of Ito Hypomelanosis of Ito
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Joubert syndrome Joubert syndrome
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Lujan-Fryns Syndrome Lujan-Fryns Syndrome
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Möbius Sequence Möbius Sequence
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Neurofibromatosis Type 1 Neurofibromatosis Type 1
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Partial Tetrasomy 15 Partial Tetrasomy 15
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Rett Syndrome Complex Rett Syndrome Complex
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Sex Chromosome Aneuploidies Sex Chromosome Aneuploidies
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XYY Syndrome XYY Syndrome
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XXY Syndrome (Klinefelter Syndrome) XXY Syndrome (Klinefelter Syndrome)
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XO Syndrome (Turner Syndrome) XO Syndrome (Turner Syndrome)
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Smith-Magenis Syndrome Smith-Magenis Syndrome
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Sotos Syndrome Sotos Syndrome
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Tuberous Sclerosis Complex Tuberous Sclerosis Complex
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Psychiatric Disorders with a High or Very High Rate of Autistic Symptomatology Psychiatric Disorders with a High or Very High Rate of Autistic Symptomatology
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Attention-deficit Hyperactivity Disorder Attention-deficit Hyperactivity Disorder
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Anorexia Nervosa Anorexia Nervosa
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Selective Mutism Selective Mutism
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Metabolic Disorders with a High or Very High Rate of Autistic Symptomatology Metabolic Disorders with a High or Very High Rate of Autistic Symptomatology
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Marfan Syndrome Marfan Syndrome
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Mitochondrial Disorders Mitochondrial Disorders
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Mucopolysaccharidoses including Sanfilippo Mucopolysaccharidoses including Sanfilippo
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Smith-Lemli-Opitz Syndrome Smith-Lemli-Opitz Syndrome
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Movement and Motor Disorders with a High or Very High Rate of Autistic Symptomatology Movement and Motor Disorders with a High or Very High Rate of Autistic Symptomatology
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Tourette Syndrome Tourette Syndrome
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Cerebral Palsy Cerebral Palsy
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Developmental Coordination Disorder Developmental Coordination Disorder
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Catatonia Catatonia
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Duchenne Muscular Dystrophy Duchenne Muscular Dystrophy
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Myotonic Dystrophy Myotonic Dystrophy
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Genetic/Neurodevelopmental/ Neurocutaneous Disorders with an Increased, but Not Extremely High, Rate of Autistic Symptoms Genetic/Neurodevelopmental/ Neurocutaneous Disorders with an Increased, but Not Extremely High, Rate of Autistic Symptoms
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Down Syndrome (Trisomy 21) Down Syndrome (Trisomy 21)
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Goldenhar Syndrome Goldenhar Syndrome
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Noonan Syndrome Noonan Syndrome
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Partial Monosomy 1p36 Partial Monosomy 1p36
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Pten Pten
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Prader-Willi Syndrome Prader-Willi Syndrome
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Williams Syndrome Williams Syndrome
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Endocrine Disorders Endocrine Disorders
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Hypothyroidism Hypothyroidism
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Congenital/Perinatal Infections Congenital/Perinatal Infections
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Rubella Rubella
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Herpes Encephalitis Herpes Encephalitis
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Cytomegalovirus and Toxoplasmosis Cytomegalovirus and Toxoplasmosis
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Teratogenic Syndromes Teratogenic Syndromes
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Fetal Alcohol Spectrum Disorder Fetal Alcohol Spectrum Disorder
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Fetal Cocaine Syndrome Fetal Cocaine Syndrome
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Thalidomide Syndrome Thalidomide Syndrome
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Fetal Valproic Syndrome Fetal Valproic Syndrome
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Disorders Affecting The Visual System Disorders Affecting The Visual System
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Retinopathy of Prematurity Retinopathy of Prematurity
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References References
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112 Double Syndromes:Autism Associated with Genetic, Medical and Metabolic Disorders
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Published:April 2010
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Abstract
A number of conditions—genetic, metabolic, and medical syndromes—have a high rate (more than expected by chance; i.e., more than a few percent) or a very high rate (more than 20%) of several autism symptoms associated with them. In the presence of these syndromes, the diagnosis of autistic disorder or autism spectrum disorder (ASD) is very often appropriate (Gillberg and Coleman 2000). These conditions are listed in Table 2.1. Some conditions, like Down syndrome, have a much lower rate of autistic symptoms than other of the listed syndromes, but, nonetheless, present a much higher rate than expected in the general population. A number of these syndromes are also discussed elsewhere in this volume, where the full range of cognitive and behavioral complications are addressed. Angelman syndrome is characterized by jerky movements, unprovoked laughter, and varying degrees of mental retardation, mostly severe or profound (Horsler and Oliver 2006). The rate of Angelman syndrome in the general population has been estimated at about 1 in 12,000 children, with a 1:1 male-to-female ratio (Steffenburg, Gillberg, Steffenburg, & Kyllerman 1996). Angelman syndrome (formerly known as ‘happy puppet syndrome’) is usually caused by a deletion of chromosome 15q11.2–12, which is similar, but not identical, to that found in children with Prader-Willi syndrome and is maternally, rather than paternally, inherited. The deletion includes a gene for the β-3 subunit of the γ-aminobutyric acid (GABA) receptor (Saitoh et al. 1994). Sixty to 75% of patients have deletions or rearrangements in the long arm of chromosome 15, and the deletion is always on the maternal chromosome. A small proportion of cases have paternal disomy for chromosome 15. At least 20% of affected persons have normal chromosomes and no evidence of disomy. In some of these cases, recurrence in relatives may be observed. Such cases may be due to a dominant mutation of the UBE3 gene at 15q11–13 resulting in an Angelman phenotype only when transmitted by females. Differences in clinical presentation are related to the nature of the genetic defect (Lossie et al. 2001).
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