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Autism and Genetics

Exploring Autism: the Search for a Genetic Etiology Katharine E. Yoder Penn State College of Medicine 2004   Introduction  Autistic Disorder is described in the DSM IV as having the characteristics of: Qualitative impairment in social interaction, Qualitative impairments in communication, Restricted repetitive and stereotyped patterns of behavior, interests, and activities, And delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years: Social interaction Language used in social communication, or Symbolic or imaginative play, And the disturbance is not described by Rett’s Disorder or Childhood Disintegrative Disorder.   Incidence à possibility of a genetic link General population: 0.04% to 0.1%, Males 3-4x > Females Twin studies: Monozygotic (MZ) and Dizygotic (DZ) –     Autism in concordance rates occurs MZ 300x> DZ –     Autism penetrance not 100% (36.3-95.7%) in MZs –     Strong arguments for genetic as well as non-genetic influences Family studies –     Risk of autism in sibling of autistic child 3% (general pop 0.1%) –     Cognitive disabilities in parents and siblings of autistic inconclusive –     Bias in studies due to less # of siblings if one autistic child in family   Chromosomal Regions of Interest  15q11-13 inverted duplication Region associated with dyslexia and genes for 3-γ-aminobyturic acid (GABA)-A receptor subunits Prader-Willi/Angelman critical region (PWACR) – two types of duplications –     proximal to PWACR, no clinical significance, familial, normal –     within PWACR, often with DD and autism, familial or de novo maternally-derived often > significance vs. paternally-derived = imprinting?   The X chromosome Fragile X: expansion of CGG repeat sequence of Xq27.3 (FMR1 gene) –     2nd most common cause of mental retardation,...

Autism and Neurology

A Review of Current Thoughts on Localized Structural Lesions in Autistic Disorder Philip Omotosho Penn State College of Medicine 2002   Definition and Epidemiology The DSM-IV diagnosis of autistic disorder requires qualitative impairments in social interaction and in communication, plus restricted repetitive and stereotyped patterns of behavior. Autistic disorder (autism) is rare, occurring in 2-5 children per 10,000 live births. It is more common in males, with a male to female ratio of 3:1. Risk of recurrence in siblings is 3-5 percent, a risk about 75 times greater than that in the general population. Autism is among the group of disorders known as the Pervasive Developmental Disorders. The other disorders in the group include Rett’s disorder, childhood disintegrative disorder, and Asperger’s disorder. Mental retardation is associated with 70 percent of cases and seizures with 33 percent. Autistic features are associated with other neurological diseases such as tuberous sclerosis, neurofibromatosis, fragile X syndrome, and phenylketonuria. These findings have led to the conclusion that there is a genetic predisposition to autism.   Structural Abnormalities in Autistic Disorder Several abnormalities have been described in the last 20 years in the study of Autism, including: Delayed maturation of frontal lobe circuitry (Zilbovicius et al., 1993) Decreased functional connections within the cerebral cortex and between the cortex and subcortical regions (Horwitz et al., 1988) Abnormalities of the dentatothalamocortical pathways (Chugani et al., 1997) These findings point not to a specific location in the brain but suggest that autism is due to connection abnormalities between neural networks that process information. The following studies have found evidence for localized structural abnormalities, which could explain clinically observed...

Single Mom’s Hostility Can Cause Problems

NEW YORK (Reuters Health) – Children living with single mothers are at greater risk for social, academic and psychiatric problems than their peers who live in two-parent families. But according to Canadian researchers, factors such as family income, a mother’s depression or a hostile parenting style–not single status by itself–accounts for at least part of this risk. “The results suggest that children from single-mother families develop difficulties for the same reasons as children from two-parent families,” conclude Dr. Ellen L. Lipman from McMaster University in Hamilton, Ontario, and colleagues. High levels of stress associated with low family income can undermine attempts to provide supportive and consistent parenting. Likewise, depressed mothers may be emotionally unavailable to their children, which can lead to low self-esteem and social problems. These problems, which can occur in any family, are more likely to occur in single-mother families, the researchers explain. Their study is published in the January issue of the Journal of the American Academy of Child and Adolescent Psychiatry. The researchers reviewed information on more than 9,000 children aged 6 to 11 who took part in a national youth survey in Canada. Children living with single mothers were found to be at greater risk of developing a number of problems than their peers living with two parents, including low math scores and psychiatric difficulties. Higher household income decreased the risk of social and psychiatric problems, however, and was associated with higher math scores. A higher level of maternal education was also linked with higher math scores and fewer psychiatric problems while maternal depression and, in particular, hostile parenting were closely tied to the...

Children’s time: the real issue in grandparents’ rights case

by Dahlia Lithwick FindLaw Contributor Special to CNN Interactive June 23, 2000 Web posted at: 12:20 p.m. EST (1620 GMT) (FindLaw) — Much of the commentary about Troxel v. Granville — the so-called grandparents’ rights case decided in the Supreme Court in June — has focused on what the modern “family” means, both practically and as a matter of constitutional law. This question has become more difficult as non-traditional households boom, and two-parent-heterosexual-stain-removing-mom households decline. In the 1950s, grandparents who sought visitation would have been looked upon as odd — perhaps even a bit tetched. Now, however, it’s common for non-parents to seek visitation and even custody. (Indeed, under the first lady’s theory, even an entire village might have the right to visitation.) This sea change is partly due to the expansion of our definition of family. Which is why the holding in Troxel — that grandparents cannot visit their grandchildren over their mother’s objection — has had national resonance. But it’s not the only reason. Troxel was not just about redefining family. It was also about our society’s increasing obsession with time, and our lack of it. As time with children becomes more rare and more precious, it’s no surprise that adults have started battling over it – and taking their fights all the way the Supreme Court. Splitting the baby’s time At its heart, Troxel was a fight over a unique commodity: children’s time. The precise amount of time at issue was 1,200 hours per year — the difference between the amount of visitation the girls’ paternal grandparents sought, and the amount their mother was willing to...

Kids on Behavioral Meds

The Child Advocate is devoted to children and the parents and professionals that work with them and advocate for them. Children on medication for behavioral problems is a major concern for parents. The information presented at this site is for general use only and is not intended to provide personal advice or substitute for the advice of a qualified professional. If you have questions about the information presented here, please consult the resources listed or other professional in your area. US kids on behavioral meds tripled in a decade NEW YORK, Apr 25 (Reuters Health) – The number of children in the United States prescribed medications to treat depression, attention-deficit/hyperactivity disorder (ADHD) or other behavioral conditions nearly tripled between 1986 and 1996, according to the results of a study. The overall annual rate for the prescription of these types of medications–called psychotropic medications because they aim to treat emotional/behavioral conditions–was 14 children per 1,000 in 1987 and increased to 39 children per 1,000 in 1996, the investigators found. In the study, Dr. Mark Olfson of Columbia University in New York City and colleagues reviewed surveys of medication use for more than 50,000 people including about 17,000 children under the age of 18 years in 1986 and 1996. The findings are published in the May issue of the Journal of the American Academy of Child and Adolescent Psychiatry. Olfson and his team found that the number of children taking stimulants such as Ritalin and Adderall, used to treat ADHD, quadrupled from 6 children per 1,000 in 1986 to 24 per 1,000 in 1996. Those taking antidepressants such as Prozac or...

The Brain and Dyslexia

February 16, 2001 Web posted at: 11:40 AM EST (1640 GMT) SAN FRANCISCO, California (AP) — Discovery of a deficit in key reading and visual centers of the brain could lead to early diagnosis and treatment for a disorder that affects about 15 percent of the population, researchers report. A study at Georgetown University Medical Center in Washington suggests that people with dyslexia have a much lower level of activity in the brain’s left inferior parietal, an area that is important both in reading and in processing of visual images. Dr. Guinevere Eden and Dr. Thomas Zeffiro, a husband and wife team and co-directors of the Center for the Study of Learning at Georgetown, also found that the right inferior parietal can be taught to compensate for the weakness in the left side of the brain through a program of intense reading training. “These study results are further evidence that dyslexia has biological roots,” said Eden. She and Zeffiro discussed their study Thursday at the national meeting of the American Association for the Advancement of Science. Dyslexia is generally diagnosed in elementary school children who have great difficulty learning to read. The core of this difficulty, said Eden, is the inability to link up visual symbols with sounds, an essential process in reading. A youngster with dyslexia, for instance, could not associate the sounds in the spoken word “cat” with the letters that make up the simple word, said Eden. It is estimated that 5 percent to 15 percent of the population suffers from some degree of dyslexia, she said. Some learn to compensate and eventually become good readers, but Eden...

Breast-feeding to support resilience to stress

SUNDAY, Jan. 6, 2007 (HealthDay News) — “Breast-feeding is considered a great way for a mother to form a close bond with her infant. And now there’s evidence to suggest it may also help kids be more resilient to stress.”Conclusions include that “breast feeding is associated with resilience against the psychosocial stress linked with parental divorce/separation. This could be because breast feeding is a marker of exposures related to maternal characteristics and parent–child interaction.“ The study findings were published in the journal Archives of Disease in...

Celiac Disease Present in 1% of 5-Year-Olds in Study

(The Nemours Foundation) Celiac disease results from a sensitivity to a dietary protein (called gluten) found in wheat and certain other grains. The immune system’s abnormal response to this protein causes damage to the lining of the intestine, interfering with its ability to absorb nutrients. How common is celiac disease? Researchers from the University of Colorado School of Medicine in Denver examined the prevalence of celiac disease in a group of 5-year-old children. Three hundred eighty-six 5-year-old children participated in this 5-year study of the prevalence of celiac disease. At birth, the umbilical cord blood of all the children was tested to determine the presence of a gene that may identify people at increased risk for developing celiac disease. Throughout the study, the children periodically underwent additional blood tests and if celiac disease was suspected, biopsies of the child’s intestinal tract were done to diagnose the disease. Within the general population, the risk for celiac disease among 5-year-olds was about 1%. The risk for celiac disease was higher in female children. In general, celiac disease was not recognized in children under 2.5 years. What This Means to You: Celiac disease affects one child out of every 100, according to the results of this study. If your child has any of the symptoms associated with celiac disease such as difficulty gaining weight, vomiting, diarrhea, fatigue, and irritability, talk to your child’s doctor. The good news? The symptoms of celiac disease can be eliminated if your child eats a gluten-free diet. Source: Edward J. Hoffenberg, MD; Todd MacKenzie, PhD; Katherine J. Barriga, MSPH; George S. Eisenbarth, MD, PhD; Fei Bao, MD; Joel...
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