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AUTISM Outline: The history of ASD. What is ASD. The reasons of ASD. ASD symptoms. ASD treatment. Helping children with ASD. The History of Autism: From the early 1900s, autism has referred to a range ofneuro-psychological conditions. DSM5  Characterizations of ASD o Persis...

AUTISM Outline: The history of ASD. What is ASD. The reasons of ASD. ASD symptoms. ASD treatment. Helping children with ASD. The History of Autism: From the early 1900s, autism has referred to a range ofneuro-psychological conditions. DSM5  Characterizations of ASD o Persistent deficits in social communication and social interaction across multiple contexts; o Restricted, repetitive patterns of behavior, interests, or activities; o Symptoms must be present in the early developmental perod (typically recognized in the first two years of life); and, o Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning. The causes of ASD: 1. Genetic factors: may be the most significant cause for ASD spectrum disorders. Early studies of twins had estimated heritability to be over 90%, meaning that genetics explains over 90% of whether a child will develop ASD. 2.A common hypothesis: is that ASD is caused by the interaction of a genetic predisposition and an early environmental insult. Several theories based on environmental factors have been proposed to address the remaining risk. 3.Epigenetic: mechanisms may increase the risk of ASD. Epigenetic changes occur as a result not of DNA sequence changes but of chromosomal histone modification or modification of the DNA bases. 4.Prenatal environment: The risk of ASD is associated with several prenatal risk factors, including advanced age in either parent, diabetes, bleeding, and use of psychiatric drugs in the mother during pregnancy. 5.Infectious processes: Prenatal viral infection has been called the principal non- genetic cause of ASD. Prenatal exposure to rubella or cytomegalovirus activates the mother's immune response and greatly increases the risk for ASD. The causes of ASD: 6.Teratogens: are environmental agents that cause birth defects. Some agents like lead that are theorized to cause birth defects have also been suggested as potential ASD risk factors. 7.Thyroid problems: that lead to thyroxine deficiency in the mother in weeks 8–12 of pregnancy have been postulated to produce changes in the fetal brain leading to ASD. Thyroxine deficiencies can be caused by inadequate iodine in the diet, and by environmental agents that interfere with iodine uptake or act against thyroid hormones. 8.Diabetes in the mother: during pregnancy is a significant risk factor for ASD; a 2009 meta-analysis found that gestational diabetes was associated with a twofold increased risk. 9.Locus coeruleus–noradrenergic system: This theory hypothesizes that autistic behaviors depend at least in part on a developmental dysregulation that results in impaired function of the locus coeruleus–noradrenergic (LC-NA) system. 10.Amygdala neurons: This theory hypothesizes that an early developmental failure involving the amygdala cascades on the development of cortical areas that mediate social perception in the visual domain.  Autistic Disorder : Introduction : ETIOLOGY. Unknown. Multifactorial, with a strong genetic influence. 60-90% concordance rate for monozygotic twins and a 0% concordance rate for dizygotic twins. 92% concordance rate for monozygotic twins and a 30% concordance rate for dizygotic twins for the broader spectrum of social and communication difficulties.  Autistic Disorder : Introduction : ETIOLOGY. Autism : M : F = 4 : 1 Asperger: M : F = 8 : 1 Certain genes believed to be more implicated in the heritability of autism: Chromosome 7q Chromosome 2q, Chromosome 15q11-13 No association between MMR vaccine & development of autism. Symptoms of ASD:  Main Disabilities: The signs and symptoms of autism spectrum disorder (ASD) vary widely, as do its effects. Some autistic children have only mild impairments, while others have more obstacles to overcome. However, every child on the autism spectrum has problems, at least to some degree, in the following three areas: 1.Communicating verbally and non-verbally. 2. Relating to others and the world around them. 3.Thinking and behaving flexibly. 4. Some children with autism spectrum disorders start to develop communication skills and then regress, usually between 12 and 24 months. This should be taken very seriously, as regression is a major red flag for autism. Early Signs of Autism in Babies and Toddlers (0-18 months):  The Following Delays Warrant an Immediate Evaluation By Your Child’s Pediatrician: By 6 months: No big smiles or other warm, joyful expressions. By 9 months: No back-and-forth sharing of sounds, smiles, or other facial expressions. By 12 months: Lack of response to name. By 12 months: No babbling or “baby talk”. By 12 months: No back-and-forth gestures, such as pointing, showing, reaching, or waving. By 16 months: No spoken words. By 24 months: No meaningful two-word phrases that don’t involve imitating or repeating.  Signs and Symptoms of Social Difficulties in Autism: 1. Appears disinterested or unaware of other people or what’s going on around them. 2. Doesn’t know how to connect with others, play, or make friends. 3. Prefers not to be touched, held, or cuddled. 4. Doesn’t play "pretend" games, engage in group games, imitate others, or use toys in creative ways. 5. Has trouble understanding or talking about feelings. 6. Doesn’t seem to hear when others talk to him or her. 7. Doesn't share interests or achievements with others (drawings, toys). 8. Basic social interaction can be difficult for children with autism spectrum disorders. Many kids on the autism spectrum seem to prefer to live in their own world, aloof and detached from others.  Autistic Disorder Other precursor skills to joint attention that are often absent in children with autism are Protoimperative pointing “ Pointing to obtain an object of desire” and Protodeclarative pointing “ Pointing to an object of interest ,simply to have another person share in the interest with him or her). DIAGNOSIS OF AUTISM  Diagnosis o Diagnosis is often a two-stage process. The first stage involves general developmental screening during well-child checkups with a pediatrician or an early childhood health care provider. Children who show some developmental problems are referred for additional evaluation. o The second stage involves a thorough evaluation by a team of doctors and other health professionals with a wide range of specialties. At this stage, a child may be diagnosed as having ASD or another developmental disorder.  Autistic Disorder DIAGNOSIS: Screening tools for early detection. Checklist for Autism in Toddlers (CHAT): Screening tool for 18 mo old children in primary care settings. CHAT combines parent responses + direct observation in Clinic. High positive predictive value, but low sensitivity. Modified Checklist for Autism in Toddlers (M-CHAT): 23-item parent questionnaire. Good sensitivity and specificity (0.87% and 0.99%, respectively).  Diagnostic Criteria for Autism: A. A total of 6 (or more) items from (1),(2), and (3), with at least 2 from (1) and 1 each from (2) and (3): (1). Qualitative impairment in social interaction, (2). Qualitative impairments in communication, (3). Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities B. Delay or abnormal functioning in at least 1 of the following areas, with onset < age 3 yr: (1) social interaction, (2) language as used in social communication, or (3) symbolic or imaginative play C. The disturbance is not better accounted for by Rett disorder or childhood disintegrative disorder  Diagnostic Criteria for Autism: A. A total of 6 (or more) items from (1),(2), and (3), with at least 2 from (1) and 1 each from (2) and (3): (1). Qualitative impairment in social interaction, a. Marked impairment in use of multiple nonverbal behaviors, such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction b. Failure to develop peer relationships appropriate to developmental level c. 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) d. Lack of social or emotional reciprocity  Diagnostic Criteria for Autism: A. A total of 6 (or more) items from (1),(2), and (3), with at least 2 from (1) and 1 each from (2) and (3): (1). Qualitative impairment in social interaction, (2). Qualitative impairments in communication, a. Delay in, or total lack of, development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication, such as gesture or mime) b. In individuals with adequate speech, marked impairment in ability to initiate or sustain a conversation with others c. Stereotyped & repetitive use of language or idiosyncratic language d. Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level  Diagnostic Criteria for Autism: A. A total of 6 (or more) items from (1),(2), and (3), with at least 2 from (1) and 1 each from (2) and (3): (1). Qualitative impairment in social interaction, (2). Qualitative impairments in communication, (3). Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities a. Encompassing preoccupation with ≥1 stereotyped and restricted pattern of interest that is abnormal in either intensity or focus b. Apparently inflexible adherence to specific, nonfunctional routines or rituals c. Stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting or complex whole body movements) d. Persistent precoccupation with parts of objects  Autistic Disorder DIAGNOSIS. Physical examination. Head circumference. 25% of ASD have macrocephaly, but may not be apparent until after 2nd yrs age. In the absence of dysmorphic features or focal neurologic signs, additional neuroimaging for investigation of the macrocephaly is not indicated. Audiologic evaluation; Speech and language evaluation;  Autistic Disorder DIAGNOSIS. Look for other physical stigmata. Examination of skin with a Wood lamp for hypopigmented lesions of Tuberous sclerosis. Look for dysmorphic features of -Fragile X syndrome (long face, large ears, large testes) -Angelman syndrome (ataxic gait, broad mouth)  Autistic Disorder DIAGNOSIS. Check Lead level if child shows pica etc. Chromosomal analysis if child has mental retardation / dysmorphic features; EEG in developmental regression or seizures. TREATMENT OF AUTISM - Solving the puzzle.. Autism Spectrum Disorder (ASD) Treatment: 1 Educational interventions. 2 Medical management.  Treatment: Early Intervention o Research has shown that intensive behavioral therapy during the toddler or preschool years can significantly improve cognitive and language skills in young children with ASD.  ABA Therapy o One type of a widely accepted treatment is applied behavior analysis (ABA). The goals of ABA are to shape and reinforce new behaviors, such as learning to speak and play, and reduce undesirable ones. ABA, which can involve intensive, one-on-one child-teacher interaction for up to 40 hours a week, has inspired the development of other, similar interventions that aim to help those with ASD reach their full potential. o Verbal Behavior—focuses on teaching language using a sequenced curriculum that guides children from simple verbal behaviors (echoing) to more functional communication skills through techniques such as errorless teaching and prompting  Educational Interventions: 3 Occupational Therapy (OT): used as a treatment for the sensory integration issues associated with ASDs. Improves the individual’s quality of life and ability to participate fully in daily activities. 4Physical Therapy (PT): to improve gross motor skills and handle sensory integration issues, particularly those involving the individual’s ability to feel and be aware of his body in space.  Autistic Disorder TREATMENT. For psychiatric symptoms: Pharmacotherapy to ameliorate target behaviors like hyperactivity, tantrums, physical aggression, self- injurious behavior, stereotypies, and anxiety symptoms, especially obsessive-compulsive behaviors. Older neuroleptics: Extrapyramidal symptoms, tardive dyskinesia. Atypical neuroleptics (risperidone, olanzapine): Effective.  Autistic Disorder TREATMENT. Clomipramine (TCA) reduces compulsions and stereotypies. However, it -lowers seizure threshold, -can cause agranulocytosis, and -has cardiotoxic and behavior toxicity effects. Other medications: Stimulants, Selective serotonin reuptake inhibitors (SSRIs) (may diminish agitation, OCD, hyperactivity) Clonidine. Stem Cell Therapy Targets Several Aspects of Concern: 1. Immunity. 2. Metabolism. 3. Communication ability. 4. Learning capacity, memory, thinking. Improvement is reached through restoration of the lost (impaired) neuron connections and formation of the new neuron connections, speeding up brain reactions through improvement of synaptic transmission and development of the new neuron connections. Improvements in ASD After the Stem Cell Therapy: 1. Better tolerance of different foods and improved digestion. 2. Easier contact with the child (first of all, eye contact). 3. More adequate behavior at home and outside. 4. Less or no fear of loud noises, strangers and bright colors (gradual improvement). 5. Improved verbal skills. 6. Writing skills improvement or development. 7. Improved self-care skills. 8. Improved attention span and concentration. A living example of the Autism Treatment Stem Cells: https://youtu.be/Dso08I73MvE  Autistic Disorder PROGNOSIS. Better prognosis: Higher intelligence, functional speech, and less bizarre symptoms and behavior better prognosis. [may grow up to live self-sufficient, employed life in community.(though isolated) ] Early intensive therapy Bad prognosis: Many have bad prognosis, & remain dependent on family for their everyday needs. Delayed diagnosis leads to poor outcome.