Much rarer than autism. I've seen references which treat this as a synonym for Heller's Disease (see above). From DSM IV: DIAGNOSTIC CRITERIA FOR 299.10 CHILDHOOD DISINTEGRATIVE DISORDER A. Apparently normal development for at least the first 2 years after birth as manifested by the presence of age appropriate verbal and nonverbal communication, social relationships, play and adaptive behavior. B. Clinically significant loss of previously acquired skills (before age 10 years in at least two of the following areas: (1) expressive or receptive language (2) social skills or adaptive behavior (3) bowel or bladder control (4) play (5) motor skills C. Abnormalities of functioning in at least two of the following areas: (1) qualitative impairment in social interaction (e.g., impairment in nonverbal behaviors, failure to develop peer relationships, lack of social or emotional reciprocity) 2) qualitative impairments in communication (e.g., delay or lack of the development of spoken language, inability to initiate or sustain a conversation, stereotyped and repetitive use of language, lack of verbal make-believe play) (3) Restricted repetitive & stereotyped patterns of behavior, interests and activities, including motor stereotypes and mannerisms. D. The disturbance is not better accounted for by another specific Pervasive Developmental Disorder or by Schizophrenia. Tourette's Syndrome a condition thought to be genetic that causes uncontrollable motor and/or vocal tics. A major longterm study is being conducted by David Cummings, who published a thick book on the genetic links between various neurological disorders. (Not easy reading.) Obsessive-compulsive disorder Obsessions are thoughts or images that are involuntary, intrusive, and anxiety-provoking. Compulsions are impulses to perform a variety of stereotyped behaviors or rituals. OCD is a neurological disorder, cause uncertain. However, it is often confused with obsessions and compulsions caused by mental illness or simple neurosis, in much the way that the term "Autism" has been used to refer to any person who is severely withdrawn. For a clearer picture of OCD, read The Boy Who Wouldn't Stop Washing (Judith Rapaport). Clinical OCD has easily categorized symptomology that tend to occur at certain stages of life; counting and sorting and "evening out" usually start during childhood, "grooming" compulsions usually start at puberty, and "ruminating" (obsessions) usually begin during adulthood. Cocktail party speech syndrome a syndrome comprising the following characteristics: (1) A perseveration of response, either echoing the examiner, or repetition of an earlier statement made by the child. (2) An excessive use of social phrases in conversation. (3) An over-familiarity in manner, unusual for one's age. (4) A habit of introducing personal experience into the conversation in irrelevant and inappropriate contexts. (5) Fluent and normally well articulated speech. Asperger's Syndrome Similar to Autism except that language development is normal. In some people's minds, the same thing as high-functioning Autism. From DSM IV (p77): DIAGNOSTIC CRITERIA FOR 299.80 ASPERGER'S DISORDER A. Qualitative impairment in social interaction, as manifested by at least two of the following: (1) marked impairments in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction (2) failure to develop peer relationships appropriate to developmental level (3) a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g. by a lack of showing, bringing, or pointing out objects of interest to other people) (4) lack of social or emotional reciprocity B. Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following: (1) encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus (2) apparently inflexible adherence to specific, nonfunctional routines or rituals (3) stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements) (4) persistent preoccupation with parts of objects C. The disturbance causes clinically significant impairments in social, occupational, or other important areas of functioning D. There is no clinically significant general delay in language (e.g., single words used by age 2 years, communicative phrases used by age 3 years) E. There is no clinically significant delay in cognitive development or in the development of age-appropriate self-help skills, adaptive behavior (other than social interaction), and curiosity about the environment in childhood F. Criteria are not met for another specific Pervasive Developmental Disorder of Schizophrenia Nonverbal learning disabilities Semantic-pragmatic speech disorder (Semantic Pragmatic Disorder or SPD) A communication problem with mild autistic symptoms and problems generalizing. Schizophrenia a mental illness which can result in behavior similar to autism. Unlike autism, schizophrenia usually starts in adolescence or early adulthood, and involves delusions or hallucinations. Note that "Childhood Schizophrenia" used to refer to what we now label "Autism" and that the former term is still used in some circles. PDD or PDD/NOS or PDD-NOS "Pervasive Development Disorder/Not Otherwise Specified" PDD therefore becomes a term for individuals who do not fully meet the medical criteria for autism, but it is a very loose term. From DSM IV: 299.80 PERVASIVE DEVELOPMETAL DISORDER NOT OTHER SPECIFIED (including Atypical Autism) This category should be used when there is a severe and pervasive impairment the development of reciprocal social interaction, verbal and nonverbal communication skills, or when the stereotyped behavior, interest and activities are present, but the criteria are not met by a specific Pervasive Developmental Disorder, Schizophrenia, Schizotypal Personality Disorder or Avoidant Personality Disorder. For example, this category includes "atypical autism" - presentations that do not meet the criteria for Autistic Disorder because of late age at onset, atypical symptomatology, or subthreshold symptomology (note; fewer than 6 items), or all three. mucopolysaccharoidoises (Type I) Has coincided with autism. adenylosuccinate lyase deficiency a disorder of nucleic acid metabolism. Has coincided with autism. Childhood aphasia ? Receptive Developmental Dysphasia ? Celiac's disease Gluten intolerance (?) Fragile-X Syndrome The most common cause of inherited mental retardation, with an incidence of about 1/1500 in males and 1/2500 in females. The inheritance pattern of the disease is unlike other X-linked disorders, because it shows significant numbers of apparently unaffected male carriers and some clinically affected females. The disease derives its name from the presence of a fragile site on the X chromosome of affected individuals. ADD "Attention Deficit Disorder" A disorder consisting of having a short attention span. Dr. C. Gillberg from Sweden has proposed (in addition to others) that there may be a continuum from ADD to autism. He proposes that some kids are in the middle of the continuum, with a combination of ADD and autistic features. These kids often have "soft" neurologic signs (incl. fine and/or gross motor coordination problems) in addition to their ADD, and are socially awkward. ADHD "Attention Deficit Hyperactivity Disorder" Another term for ADD when the person is also hyperactive. Thought to be caused by a chemical imbalance in the brain, which results in a biological deficiency in a childs ability to concentrate. Diagnosis of ADHD is a grey area: there are 18 criteria involved in identifying ADHD including such traits as inability to concentrate and aggressiveness. The question of how many criteria a child must have before pharmaceutical treatment is however still debated. A daily dose of a controversial prescription drug called RITALIN, has been reported to cause marked improvement in childrens behaviour. CMV ? Tuberous Sclerosis ? Hyperlexia a disorder consisting of precocious reading development, disordered language acquisition and social and behavioral deficits. It is a matter of discussion whether to consider it a type of autism or asperger's syndrome. Manic Depression Autistic Children who have no apparent neurological basis for their disorders may actually be suffering from an inherited, early-onset form of manic-depression, according to results of two studies conducted at Duke University Medical Center, Durham, NC. The findings were reported in the May and August 1994 issues of "Developmental Medicine and Child Neurology." Angelman Syndrome resembles autism only superficially since Angelman kids are profoundly retarded and (somtimes?) don't exhibit the lack of empathy, eye contact, etc. typical of autism. It is caused by a particular defect in chromosome 15 which can be diagnosed accurately by chromosome testing. The other name for it is the Happy Puppet because the children's limbs are usually held out from the body stiffly and the children always have a smiling countenance. Besides extreme retardation, other symptoms include low muscle tone, recurring seizures, sleep disorders, gastrointetinal problems, and slow development. Another syndrome caused by a defect in chromosome 15 is Prader-Willi. Smith-Magenis Syndrome has a lot of autistic characiteristics. Caused by a particular defect in the 17th chromosome. Klinefelter Syndromes Having an XXY chromosome. It is easily testable through genetic testing and occurs in about 1 in 1000 births. Often includes developmental and language impairment, and has been correlated with some kinds of withdrawn behavior. DAS "Developmental Apraxia of Speech" Also known as "Developmental Verbal Dyspraxia". A neurologically-based speech disorder observed in children learning to speak. It affects the rate of speech development, the number of sounds in a child's repertoire, and the child's ability to combine sounds during the production of words. Lactic Acidosis tendency to accumulate of lacitic acid in the blood. It's connection with autism is that it has been found to coincide with autism more than chance would dictate. Prosopagnosia The inability to recognize faces, also known as face blindness. Irlen Syndrome/Scotopic Sensitivity Syndrome (SSS) Visual perceptual problem identified by Helen Irlen which causes (among other things) black-on-white print to be difficult to read, and which can be alleviated by filtering out portions of the light spectrum with colored glasses. See Irlen Lenses under treatment. Turner's syndrome A syndrome in females where they are missing one of their two X chromosomes. Carnitine Deficiency A condition which can have symptoms similar to Reye's Syndrome. It can be caused by genetic factors. Others I've heard mentioned: Congenital Rubella Syndrome, Hypomelanosis of Ito, mucopolysacchrides, fetal alcohol effect, cocaine use during pregnancy, Anxiety disorders, Mucopolysaccharidoses (MPS), Lesch-Nyhan Syndrome, Intermittent Explosive Disorder, static encephalopathy, sleep disorder, abnormal fear structure, Cornelia de Lange Syndrome, Wilsons Disease, Aphasia, Schizoid Personality Disorder, Porphyria (?), Bi-Polar Affective Disorder, Defiant Disorder, Spacial Planning Disorder, Neurofibromatosis, Candida Albicans. _________________________________________________________________ _________________________________________________________________ Autism FAQ - Theories and Causes _________________________________________________________________ There is no theory of the cause of autism which everyone has found convincing. There may be multiple causes. Thus we will review some of the proposed causes. Most researchers are absolutely convinced that the cause is biological rather than psychological. Bernard Rimland in his book Infantile Autism (1965) cited the following evidence for a biological genesis and against the idea that parents cause their children to be autistic: 1. Some clearly autistic children are born to parents who do not fit the autistic parent personality pattern. 2. Parents who do fit the description of the supposedly pathogenic parent almost invariably have normal, non-autistic children. 3. With very few exceptions, the siblings of autistic children are normal. 4. Autistic children are behaviorally unusual "from the moment of birth." 5. There is a consistent ratio of three or four boys to one girl. 6. Virtually all cases of twins reported in the literature have been identical, with both twins afflicted. 7. Autism can occur or be closely simulated in children with known organic brain damage. 8. The symptomatology is highly unique and specific. 9. There is an absence of gradations of infantile autism which would create "blends" from normal to severely afflicted. Points 4 and 9 are not generally accepted now, perhaps because of the broadening of the condition's definition over time, and perhaps because of additional observation & data collection. There is still controversy over neurological differences in the brains of autistic people and the rest of the population. However, it does appear from evidence obtained through autopsies, MRI and PET scans that there are subtle cellular changes in the autistic brain. The increased incidence of seizures (20-30% develop seizures in adolescence) also points to neurological differences. Some specific theories as to the cause of autistic symptoms: * Yeast infections. * Intolerance to specific food substances. (see below) * Gluten intolerance ("Leaky Gut Syndrome"/Casein intolerance causing intestinal permeability and allowing improperly digested peptides to enter the bloodstream and cross the blood-brain barrier which may mimic neurotransmitters and result in the scrambling of sensory input. I've also heard "Leaky Gut Syndrome" described as lack of the beneficial bacteria that aids digestion, and that the resulting matter in the bloodstream invokes an unnecessary immune reaction. * Phenolsulphertransferase (PST) deficiency--theory that some with autism are low on sulphate or an enzyme that uses this, called phenol-sulphotransferase-P. This means that they will be unable to get rid of amines and phenolic compounds once they no longer have any use for them. These then stay in their body and may cause adverse effects, even in the brain. Treatment is dietary as well as epsom salts baths. * Brain injury. * Constitutional vulnerability. * Developmental aphasia. * Deficits in the reticular activating system. * An unfortunate interplay between psychogenic and neurodevelopmental factors. * Structural cerebellar changes. * Genetic causes. * Viral causes. * Immunological ties. * Vaccines. * Seizures. A phrase you will sometimes hear is "theory of mind" or "the theory of mind hypothesis". This is not so much a supposed cause of autism as an assertion as to its nature. The basic idea of the hypothesis is that autistic people lack an awareness of other peoples' minds that typical people start developing at a relatively young age, i.e. the autistic person doesn't so readily develop theories about what is going on in other people's minds. A corollary is that an autistic person's awareness of other people's minds is something that is developed intellectually through their own efforts. Furthermore, adherents of this theory suppose that some or all the other typical characteristics of autism stem from this one main deficit. The hypothesis is explained in some books (some have "Theory of Mind" in the title, also Uta Frith has written on it) and simple tests have been devised to test a person's awareness of other minds. _________________________________________________________________ _________________________________________________________________ Autism FAQ - Treatment _________________________________________________________________ See also the comments below under "Controversies". There is no standard, universally accepted treatment of autism; in fact, every single method has its detractors. General approaches may be summarized as follows: * Biochemical (food allergies, medication, food and vitamin supplements) * Neurosensory (sensorial integration, over stimulation and patterning, auditory training, facilitated communication, daily life therapy) * Psycho-dynamic (holding therapy, psychotherapy and psychoanalysis, option institute(which also falls in behavioral)) * Behavioral (Discrete trials (Lovaas and others), behavior modification with and without aversives, TEACCH) Note: Many of the programs mentioned above also use other approaches to some degree and an attempt was made to place them in the most appropriate category. The literature seems to show that food allergies and the possibility of candida should be checked immediately because a significant number of children may be autistic because of these problems which can be controlled through drugs or diet. As far as other kinds of drug therapy are concerned, there is no drug that is universally successful in treating autistic symptoms and that in some cases usually useful drugs may produce negative results and vice-versa. Vitamin B6 with magnesium and some other vitamins and DMG produce positive results in many cases. Any educational program (SI,AIT, psychotherapy, behavioral, etc), if done intensively, produces some positive results. There are rare cases of recovery claimed by every educational method. In addition, some methods have been reported by parents as producing negative results. Behavioral approaches are backed by scientific studies as well as anecdotal evidence. The best known, because of the amount of related scientific literature, are Lovaas' version of discrete trial and the North Carolina TEACCH programs. Both are very structured programs with a lot of positive reinforcement, two factors which seem to important. Clearly, it is important to have centers of expertise for PDD, autism, and related disorders in order to help families and school boards in experimenting and choosing the right therapy for each child. Note: this list is far from complete at this time and misses some well-known treatments. Vitamin B6 Some have attributed some success in reducing the characteristic symptoms of autistics through the ingestion of large amounts of Vitamin B6. Bernard Rimland pursued this line of investigation. Magnesium is given with it. I think the reason is that high vitamin B6 tends to deplete the body's magnesium. Suggestions have been that it reduces hyperactivity and obsessive/compulsive behaviors. To make it usable with small children, at least one company provides it in powder form. dimethylglycine (DMG) Bernard Rimland pursued this line of investigation. Suggestions are that it sometimes helps autistics with speech & with their attention span. DMG does not require a prescription in the US, being considered a food supplement (once called vitamin B-16, but it was ruled not a vitamin because no specific medical problem is associated with a deficiency of it.) The health food store people say that it is supposed to increase "oxygen uptake" by the blood stream and athletes sometimes take it for that reason. Eliminating dietary gluten/casein For some children, the effects of this intervention are obvious to their parents within hours or days. Children who seem to respond most dramatically to the removal of dairy have a history of ear infections, inconsolable crying, poor sleeping patterns, and excessive craving of milk and dairy foods. Gluten intolerance is generally indicated by loose stools and/or a craving for bread and pasta. This is a relatively harmless intervention and should be attempted as soon as possible, to see if a child does respond. If so, further exploration into biochemical treatment is recommended. Fenfluramine A drug that decreases blood serotonin concentrations. Some autistics have abnormally high blood serotonin concentrations so experiments were carried out to see if this drug affected the behavior of such autistics (or other autistics). Some success was reported. Dr. Edward R. Ritvo pursued this line of research. Periactin (AKA cyproheptadine) Another drug that decreases serotonin concentrations. This drug is normally used as an antihistamine but because of its additional affect on serotonin, has been tried on autistics. Piracetam Has shown promise in helping autistic children become more talkative, sociable, less aggressive and have an increased attention span. Available without prescription. Auditory Integration Training (AIT) A method of changing a person's sensitivity to sound at different frequencies. It was originally developed to combat the onset of some kinds of deafness, but was tried on an autistic child and cured her. Since then it has not produced any cures, but has been credited with success in reducing some of the symptoms of some children. In particular, some autistic children show a strong aversion to some sounds, and with Auditory Integration Training have lost their aversion and exhibited other reductions in the symptoms of autism. There are two methods of AIT, the Tomatis and the Berrard. They are different enough that they should perhaps be considered different therapies. Tomatis Method A kind of AIT developed by Alfred Tomatis. Over several weeks, the person listens to classical music with the low frequencies filtered out. Over time, voices (also filtered) are introduced, then the missing frequencies. Treatment requires weeks,