Autism Spectrum Disorder - General Overview People with ASD have problems in 2 major areas: Social communication and social interaction Problems with back-and forth conversation Reduced sharing of emotions and interests Poor initiation or response to social initiation Problems with non-verbal communication ( poor eye contact, problems understanding and using gestures, lack of facial expressions) Problems developing, understanding, and maintaining relationships Restricted and repetitive behaviors, interests, or activities. Repeating motor movements (toe-walking, flapping hands, spinning body) Repetitive use of speech (repeating back words or phrases, scripting) Lining up toys Insisting on sameness or certain routines Interests that are overly intense or unusual in topic/focus Over or under reacting to sounds, pain, lights, textures, smells The term “spectrum disorder” is used because the symptoms seen in each person with ASD can look quite different depending on ASD severity, intellectual ability, language ability, and age. Causes of ASD There are many different causes of ASD. We do not know yet what all of them are. There are likely many different factors that make a child more likely to have an ASD, including environmental, genetic, and biologic factors. Here’s what we do know: Most scientists agree that genes are one of the risk factors. Children who have a sibling with ASD are more likely to also have ASD. ASD occurs more often in people with certain genetic or chromosomal conditions such as Fragile X or tuberous sclerosis. Certain medications taken during pregnancy, including valproic acid and thalidomide, increase risk of ASD. Diagnosis Diagnosing ASD can be difficult since there is no medical test, like a blood test, to make the diagnosis. Therefore, ASD diagnosis is often a two or three step process. The first step is general developmental screening during well-child checkups with a primary care provider. Children who show developmental problems are referred for additional evaluation through Early Intervention or the local school district. This evaluation, looking at cognitive, language, motor, adaptive and self-help skills, is the 2nd step. The third step is evaluation with experts in diagnosing autism and other developmental disorders. We provide this 3rd step at the Kirch Center. At the Kirch Center, we use a standard way to diagnose ASD, to help make sure the diagnosis is accurate. If your child needs evaluation, this is what you can expect: We ask families to gather important information from several places and send it to us for review: School: All recent Early Intervention and Committee on Special Education testing, reports, IEP/IFSPs, as well as reports from the child’s classroom teacher, including strengths, weaknesses, and concerns. We review these reports, which gives us information on a child’s cognitive (thinking & learning), language, motor, and adaptive skills. Primary Care Provider: Health history and PCP concerns Family: We ask families to complete an intake packet to help us understand family concerns and to know about the child’s health and behavior history. After information is gathered, we conduct a phone interview with a parent or caregiver. This helps us to gather more information about the child and the concerns. On this call, we make sure that Kirch can provide the type of evaluation that is needed. Sometimes we connect families with other resources to better meet their needs. Other times, we schedule an appointment at Kirch. We often provide family resources and suggestions that the families can do before the appointment. Kirch appointment: when a child is seen for a question of ASD, the first appointment is often long. It includes more history from the family, and standard testing, called the ADOS, to look for specific symptoms of ASD. The ADOS (Autism Diagnostics Observation Schedule) is a well-known, play-based tool to help autism specialists compare children’s symptoms in a standard way. These things may be completed by a psychologist, developmental pediatrician, or pediatric nurse practitioner. A pediatrician or nurse practitioner will also complete a physical exam to look for other medical issues that can contribute to a child’s learning or behavior difficulties. Sometimes 2 or 3 appointments are needed to make a good diagnosis and address all of the child’s needs. After these things are completed, the psychologist, pediatrician, or nurse practitioner will discuss the diagnosis and recommendations with the family. Things that may be discussed include: The child’s diagnosis, and what features were seen in the child Family information, resources, and supports Treatment recommendations Recommendations for additional medical evaluation, such as genetics testing Follow-up care Autism spectrum disorders (ASD) are described by the American Psychiatric Association, in the Diagnostic and Statistical Manual of Mental Disorders (DSM). This book includes definitions and descriptions of all of the conditions that are considered psychological, such as depression, anxiety, Autism Spectrum Disorder, and others. This manual is a rule book for grouping together similar patterns of behavior that interfere with people’s daily lives. How Many People Have ASD Current estimates by the Centers for Disease Control and Prevention show that approximately 1 in every 68 children have an Autism Spectrum Disorder. It is much more common in boys than in girls. Experts disagree about whether prevalence of ASD is increasing, or if awareness has allowed more children to be properly diagnosed. For more information, please visit the autism section of the CDC website. Developmental and Learning Issues: Learning: Many, but not all, children with ASD have some degree of intellectual disability. This means that they have problems with thinking, planning, memory, problem-solving, and learning from experience. Many children will do very well on some cognitive tasks (such as putting a puzzle together), but have more difficulty with other cognitive tasks, such as those involving language-based problem solving. Communication: Children with ASD have a wide range of language and communication abilities. Some children are fully verbal, with a large vocabulary and the ability to use sentence speech to communicate. These children will still have difficulties with conversation, using verbal and nonverbal communication together, and using communication in a social way. Their speech may sound different – overly formal, including pronoun reversals, or using an unusual intonation and speech cadence. Other children never develop reliable speech and communication skills. They may have occasional words, or use other systems of communication such as picture symbols or a communication device. Most children with ASD fall somewhere in the middle – having some speech, but having problems reliably communicating with others. Motor skills: Many children with ASD have low muscle tone, and delayed development of fine and gross motor skills. Social Skills: Problems with social skills is one of the core deficits associated with ASD. This can look very different in different children. For some children, it is difficulty initiating or maintaining friendships. For others, it is problems understanding the “unwritten” social rules. Some children have very little interest in peers and prefer to spend time alone. Adaptive Skills: Most children with ASD have delays in the development of self care and daily living skills. Families and schools need to work together to teach these to children with ASD, even to those with good language and cognitive skills. Associated Medical Conditions Many children with Autism Spectrum Disorder have other health complications. Sometimes, because of problems with communication, it is more challenging to assess health problems in children with ASD. It is important that all health problems are recognized and treated. A child with ASD who is physically healthy is more likely to have better behavior and to do well in school and in other treatments. This contributes to more independence, better daily functioning, and better quality of life. The team at the Kirch Center works closely with primary care providers to help children with ASD be healthy participants in their family, school, and community. Common Health Problems Sensory problems – over or under reacting to certain sights, sounds, smells, textures, or tastes Problems with feeding and nutrition, including being overweight, underweight, having not enough of certain nutrients Sleep problems, including problems falling asleep, staying asleep, and sleep apnea Gastrointestingal problems including constipation, diarrhea and Gastroesophageal Reflux Disorder (GERD) Seizures Low muscle tone Low bone density Toe-walking and associated foot/ankle problems Common Behavioral Conditions ADHD Anxiety Depression Repetitive behaviors Feeding problems Mood problems Elopement (running off from family or caregivers) Disruptive behavior (self-injury, aggression, tantrums) For information about regional ASD resources including free community training and informational products, please visit the Rochester Regional Center for Autism Spectrum Disorder.