One in 68 Children has Autism

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Autism: Genetic and Environmental Interactions

April 3, 2017 3:00 pm Published by

babychromosomesEvidence based medicine shows that autism spectrum disorder is caused by the interplay of multiple genetic factors and environmental risk factors (Karimi, et al. 2017). Environmental factors and chemical exposure may affect the pathophysiology of the nervous system, hormone system or immune system causing the developmental disorder known as autism.

 

According to Gaugler and colleague (2014), the estimated heritability of autism spectrum disorder is approximately in the range of 50-60%. But there are hundreds of the “novo” gene mutations linked to autism risk, which contribute substantially to individual liability. It is estimated that 41% of individuals with autism have environmental factors and chemicals that target the same molecular pathways affected by the novo autism-linked mutations (e.g. CHD8, NRXN1, UBE3A, SCN2A, ADNP, etc.). Kalkbrener and colleague (2014) report that the combination of genetic and environmental factors may disrupt and interfere with neuron formation and migration, synapse formation, neurological connectivity and ultimately cause autism spectrum disorder.

 

There is a relationship between the paternal and maternal age with autism. In addition, some drugs such as Valproate, an anticonvulsant used for people with epilepsy, mood stabilizers for bipolar disorder, anti-depressants such as Selective Serotonin Reuptake Inhibitors (SSRIs)), and drugs for migraines, may increase prenatal risk to developing autism spectrum disorder (ASD).

 

Toxic chemicals such as lead, methylmercury, arsenic, mercury, cadmium, algenomeuminum, manganese, alcohol, maternal smoking, and pesticides) have been identified as harmful during the first trimester of pregnancy. Organochlorine compounds (OCCs) such as Polychlorinated biphenyl ethers (PCBs) may influence risk of autism spectrum disorder (Modabbernia et al/, 2017; Mandy and Lai (2016). Moreover, a study called “CHARGE study “(Childhood Autism Risks from Genetics and Environment), Shelton et al. (2014), found positive associations between autism and prenatal exposure to organophosphate pesticides. Lyall et al. (2017) report that prenatal exposure to pyrethroids, a chemical found on food, in houses and in humans, stimulates early gene expression and increases the risk for autism. Likewise, exposure to fungicides such as strobilurin, to azoxystrosbin found in wallboards used throughout homes, and to Pyraclostrobin found in conventional foods and in baby foods, may pose similar risks.

 

More studies and technologies are needed that use environmental sampling data to assess exposure threat to humans and to find other chemical risks for autism spectrum disorder. In addition, we need to create alerts to families who may be exposed to organophosphate, pyrethroid, or carbamate pesticides during gestation in order to decrease the risk for autism and other neurodevelopmental disorders.

 

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Francisco Monegro currently serves as the residential Clinical Director of adult services programs at QSAC. He is also a consultant on autism for the PSCH clinic and the Shield Institute. Dr. Monegro received his MD/PhD in clinical psychology from the University of Santo Domingo/University of Kansas. In 1988, he received a diploma from the American Board of Medical Psychotherapists, Nashville, and from the International Academy of Behavioral Medicine, Counseling and Psychotherapy, Dallas, TX.

Future Focus on Autism Treatment: Biomarkers

January 24, 2017 3:00 pm Published by

asd testThe autism diagnosis has been based on information collected from clinical assessments. These data points include a battery of clinical tests, level of participation in social interaction, communication skills, repetitive behaviors, and parent surveys. However, the advances in the understanding of the genetic architecture of autism spectrum disorders (ASDs) have been shifting the paradigm to a model that integrates unique biological and clinical features of the person and the health problem into clinical management. Therefore, the future focus on autism treatment is to identify biological markers or biomarkers to prevent, diagnose, treat and prognosticate autism. According to Strimbu and Tavel (2010), a biomarker is “a characteristic that is objectively measured and evaluated as an indicator of normal biological processes, pathogenic processes, or pharmacologic responses to a therapeutic intervention.”

 

Genetic testing may reveal a genetic susceptibility of an individual to develop Autism Spectrum Disorder. A diagnostic biomarkers may help the earlier detection of autism. A prognostic biomarker may indicate how a condition will be developed in an individual who is already diagnosed. A predictive biomarker helps determine which individuals are most likely to benefit from a specific treatment option.

 

There are several organizations, such as Autism Sequencing Consortium and Autism Biomarkers Consortium for Clinical Trials (ABC-CT) developing more objective knowledge to diagnose and treat autism spectrum disorder. According to Schaerer (2016) “recent advances have demonstrated that specific etiologic factors in autism spectrum disorders can be identified in 30%–40% of cases. Based on early reports newer, emerging genomic technologies are likely to increase this diagnostic yield to over 50%”. Heritability estimates over the past 20 years for ASD have been in the range of 70 to 90%.

 

Emerging biomarkers include genetics (genes susceptibility) and epigenetics findings, electroencephalograms (EEG) and MRI to measure brain function and structure, biochemical measures such as analysis of blood plasma metabolites, proteins, platelet serotonin, lower melatonin secretion/excretion; increased oxidative stress. Other diagnostic tools that can be considered biomarkers include eye tracking technology to measure visual attention, heart rate, pupil response, head circumference, dysmorphology and automated recording techniques to assess behavior and speech.

 

We hope that in the near future, the identification of quantifiable biomarkers related to genetic, biochemical, electrophysiological and behavioral mechanisms improve the diagnosis, prognosis and treatment of Autism Spectrum Disorder.

 

fmonegro-blog

Francisco Monegro currently serves as the residential Clinical Director of adult services programs at QSAC. He is also a consultant on autism for the PSCH clinic and the Shield Institute. Dr. Monegro received his MD/PhD in clinical psychology from the University of Santo Domingo/University of Kansas. In 1988, he received a diploma from the American Board of Medical Psychotherapists, Nashville, and from the International Academy of Behavioral Medicine, Counseling and Psychotherapy, Dallas, TX.

Future Focus on Autism Treatment: Precision Medicine

October 31, 2016 3:00 pm Published by

dna-strain“Personalized Medicine”, “Precision Medicine”, or “Individualized Medicine” is a concept that has modern applications to treatment of malignancies, heart disease, cystic fibrosis, HIV, asthma, hepatitis C, alpha 1 antitrypsin deficiency, among many disease. Jameson and Longo (2015) define precision medicine “as treatments targeted to the needs of individual patients on the basis of genetic, biomarker, phenotypic, or psychosocial characteristics that distinguish a given patient from other patients with similar clinical presentations”. In respect to Autism, our advancements in understanding the disorder has not yet translated to our ability to provide precision medicine. We have amassed a wealth of knowledge of the disorder, but have limited therapies to treat it.

According to a report by Sahin and Sur (2015), the heritability of autism has been estimated between 0.7–0.8%, including de novo mutations and epigenetic and environmental factors configuring complex risk architecture (Frye and Rossignol, 2016). Genome analysis has shown association with autism and 15q11–13, 16p11.2, and 22q11.2 copy number variants (CNV) and single nucleotide variants which some of them are de novo (not found in either parent). In addition, several studies, using whole exome sequencing, have estimated between 400-1,000 susceptibility genes associated with autism (Kim and Leventhal, 2015).

Even though the advances in basic neuroscience and human genetics, according to Sahin and Sur (2015), patients with autism spectrum disorder have limited pharmacological options. So far, the FDA has approved only two drugs to treat irritability and not symptoms domain of autism, Risperidone (dopamine antagonist) and Aripiprazole (dopamine agonist). It is imperative to validate a set of measures, indicators or biomarkers (molecular, imaging and behavioral) to develop medications or a particular treatment which target different autistic phenotypes.

Early diagnosis of subtypes of autism would be important in testing which targeted treatment plans are most effective.

 

fmonegro-blog

Francisco Monegro currently serves as the residential Clinical Director of adult services programs at QSAC. He is also a consultant on autism for the PSCH clinic and the Shield Institute. Dr. Monegro received his MD/PhD in clinical psychology from the University of Santo Domingo/University of Kansas. In 1988, he received a diploma from the American Board of Medical Psychotherapists, Nashville, and from the International Academy of Behavioral Medicine, Counseling and Psychotherapy, Dallas, TX.

Co-morbid Disorders in Autism Spectrum Disorder

July 11, 2016 3:00 pm Published by

brainwavesAutism Spectrum Disorder is a neurodevelopmental disorder which is associated with multiple co-morbid disorders.

These co-morbid disorders include genetic disorders such as fragile X syndrome, tuberous sclerosis, 15q duplications, and untreated phenylketonuria; electroencephalographic abnormalities which is seen in 20–50% of cases such as in epilepsy; intellectual disability which is seen in approximately 70-75% of cases; medical conditions that are noted in 15–37% of cases such as sleep disturbance, gastrointestinal symptoms, obesity, asthma, allergies; autoimmune diseases such as hypothyroidism, hyperthyroidism; sensory issues; and psychiatric disorders such as major depression, bipolar disorder, anxiety disorder, schizophrenia, and OCD.

Mannion and Leader (2013, 2015) explain that one of the most researched topic, and not fully understood, has been the relationship between autism and epilepsy. The risk of autism is greater with epilepsy associated with tuberous sclerosis complex (TSC), and epilepsy associated with neurofibromatosis (NF-1). When we compare idiopathic autistic disorder and epilepsy, epidemiological studies have found that they co-occur in approximately 30% of individuals with either autism or epilepsy. The prevalence of autism is significantly higher than in the general population where 2% has been diagnosed with epilepsy (Tuchman, et al. 2010).

According to a research by Christelle, et al. (2015), all seizure types have been reported associated with autism. However, the most common type of seizures found in individuals with autism and epilepsy is complex partial and generalized seizures, where the activities are more frequent in temporal and parietal areas of the brain. In addition, there are shared genetic risk factors for autism and epilepsy. There are several copy number variants (CNVs) which are linked to both autism and epilepsy [e.g. 1q21.1 deletions, 7q11.23 duplications, 15q11.1-q13.3 duplications, 16p11.2 deletions, 18q12.1 duplications, and 22q11.2 deletions.]

The challenging behaviors such as repetitive behaviors, self-injurious behaviors, psychomotor agitation with disruptive behaviors and aggression in individuals with autism and epilepsy represent a difficult task in term of understanding and treatment options because some of these behaviors may be considered also part of the epilepsy phenotype.

Often we see that parents, educators, clinicians and custodians become frustrated at the challenging behaviors of this patient population. We believe that the best approach to developing a comprehensive treatment plan involves an interdisciplinary team that includes geneticists, psychiatrists, pharmacists, neurologists and psychologists.

 

 

fmonegro-blog

Francisco Monegro currently serves as the residential Clinical Director of adult services programs at QSAC. He is also a consultant on autism for the PSCH clinic and the Shield Institute. Dr. Monegro received his MD/PhD in clinical psychology from the University of Santo Domingo/University of Kansas. In 1988, he received a diploma from the American Board of Medical Psychotherapists, Nashville, and from the International Academy of Behavioral Medicine, Counseling and Psychotherapy, Dallas, TX.

Pharmacological Therapy that May Reduce Autistic Behaviors

April 11, 2016 3:00 pm Published by

monegroarticleThere is a hypothesis that the autistic disorder may result from an imbalance between excitatory glutamatergic and inhibitory GABAergic pathways. Some studies have investigated the potential role of Gamma-Aminobutyric Acid (GABA) modulators such as valproate (Depakote), Acamprosate (Campral), and Arbaclofen (Brondine et.al 2016); Memantine (Namenda) and Minocycline (Minocin) (Kumar & Sharma, 2016).

Depakote is an anticonvulsant medication. Acamprosate (Campral) is a GABA analog indicated for maintenance of alcohol abstinence. Arbaclofen is a derivate of Baclofen, a skeletal muscle relaxant. Bumetanide (Burnex) is a chloride co-transporter NKCC1 antagonist diuretic which can reduce intracellular concentration of chloride in neurons. Dipeptide L-carnosine acts by reducing zinc and copper influx near GABA receptors. Riluzole (Rilutex) is used for the treatment of amyotrophic lateral sclerosis (ALS).

Kumar and Sharma (2016) have studied the role of Minocycline and Memantine to reduce maladaptive behaviors. Minocycline is a tetracycline indicated to treat inflammatory lesions. Memantine is used for the treatment of moderate to severe dementia. While the authors did not study its effect specifically in Autistic subjects, they were able to demonstrate that Minocycline and Memantine reduced locomotion, anxiety, brain oxidative and nitrosative stress, inflammation, calcium and blood brain barrier permeability when these symptoms were induced by Valproic acid.

All of the above medications are not yet approved by the FDA for treatment of autism, although they may have potential off label use for autistic individuals.

 

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Francisco Monegro MD., PhD., currently serves as the residential Clinical Director of adult services programs at QSAC. He is also a consultant on autism for the PSCH clinic and the Shield Institute. Dr. Monegro received his MD/PhD in clinical psychology from the University of Santo Domingo/University of Kansas. In 1988, he received a diploma from the American Board of Medical Psychotherapists, Nashville, and from the International Academy of Behavioral Medicine, Counseling and Psychotherapy, Dallas, TX.

Autism Spectrum Disorder: Discovering An Etiology

January 11, 2016 3:00 pm Published by

helixAutism as well as other neurodevelopmental disorders (NDDs) can be better understood if we can identify the connection between contributing genetic and environmental factors.  Twin studies have shown high evidence of heritability. Several genetic syndromes have been associated with autism by mutations in single genes such as FMR1 in fragile X syndrome, MECP2 in Rett syndrome, and TSC1 and TSC2 in tuberous sclerosis complex or by deletions or duplications affecting multiple genes (e.g., deletion of 16p11.2) or maternal duplication/triplication (15q11-q13) (Wang, et al. 2010; Weiss, et al. 2008).

 

In addition, epidemiological studies have found evidence of the role of environmental factors in Autism Spectrum Disorder risk. Environmental exposures before and during pregnancy to Valproic Acid, Thalidomide, and antidepressants or Selective Serotonin Reuptake Inhibitors medications (SSRI) have been associated with an increased risk of Autism (Clements, et al. 2015; Croen et al., 2011; Christensen, et al. 2013; Matelski and de Water, 2015). Exposure to toxicants such as pesticides, solvents, substance use disorder, PCBs and air pollutants during pregnancy can have severe consequences and implications in Autism Spectrum Disorder.

 

Ressignol and colleagues in their study argue that “shared environmental and genetic factors could converge to result in neurotoxic mechanisms that may lead to the development of ASD”.

 

We hope that the understanding of the combination of genetic, environmental, neurobiological and immunological factors may lead to better patient care, benefits for the family and new targets for treatments.

 

fmonegro-blog

Francisco Monegro currently serves as the residential Clinical Director of adult services programs at QSAC. He is also a consultant on autism for the PSCH clinic and the Shield Institute. Dr. Monegro received his MD/PhD in clinical psychology from the University of Santo Domingo/University of Kansas. In 1988, he received a diploma from the American Board of Medical Psychotherapists, Nashville, and from the International Academy of Behavioral Medicine, Counseling and Psychotherapy, Dallas, TX.

Challenging Behaviors in Autistic Individuals and Emotional Dysregulation

October 19, 2015 6:00 pm Published by

According to Emerson and Einfeld, in the book Challenging Behaviours (2011), challenging behavior such as aggressive behaviors, self-injurious behaviors, psychomotor agitation, and property destruction in combination with intellectual and /or neurodevelopmental disabilities represent a serious concern for life experiences, health, safety and well-being of the individuals and their custodians. It is a behavior of high intensity, frequency or duration which is threatening the quality of life and/or the physical safety of the individual or others. It is likely to lead to responses that are restrictive physical intervention, chemical restraint and aversive stimulation or results in exclusion. Challenging behaviors are very complex behaviors due to the nature of variation of possible co-morbidities, personal and environmental associated features. In addition to intellectual disabilities associated with challenging behaviors, researchers have found multi-variables implicated factors such as neurodevelopmental disorders (e.g. autism spectrum disorders) biological/genetic disorders (e.g. fragile X, Prader-Willi Syndrome, Williams Syndrome, Down’s Syndrome, etc.), neuro-psychiatric disorders (e.g. Disruptive Mood Dysregulation Disorder (DMDD),Psychotic Syndromes, Anxiety Disorder, Epilepsy, medication adverse effects, etc.) and environmental conditions. These combinations of factors makes very difficult to understand and treat challenging behaviors.

Although the behavioral approach provides solid evidence and coherent explanation of challenging behaviors, however, the focus has been to view challenging behaviors as forms of behavior that are shaped and maintained by their environmental consequences (e.g. positive reinforcement & negative reinforcement), functional relationship between the behaviors and the environment (e.g. relationship between events) and the environmental context (Emerson & Einfeld, 2011, Baer & Bijou, 1978). One of the problem clinicians are confronting when dealing with challenging behaviors is that not always the function or the contingencies relationship of the behaviors can be clearly determined. Some behaviors are innate, reflexes or determined by internal consequences (automatic or perceptual reinforcement) or maintained by idiosyncratic consequences. In addition different behaviors may have the same functions, and we cannot assume that contingency relationships of similar challenging behaviors are the same for different individuals. For instance, it has been suggested that anxiety and arousal may trigger self-injurious behaviors (Hutchinson, 1977) or problem behavior has been determined by obtaining access to ritualistic behaviors (Hausman et al. 2009) and lack of undifferentiated functional analysis may lead to methological problems (Ringdahl, et al. 2009).

We would like to suggest that clinicians should abandon the pathological model and embrace a comprehensive and constructive behavior assessment and intervention when dealing with individuals with autism spectrum disorders and challenging behaviors. “A pathological approach would pose the question: how can we stop John from being aggressive? A constructional approach would formulate the problem in terms of: how can we support John in responding more appropriately to the types of situations which evoke his aggression?” (Emerson and Einfeld, 2011).

Dr. Barry Prizant is his book Uniquely Human. A Different Way of Seeing Autism (2015) suggests that “staying well-regulated emotionally and physiologically should be a core, defining feature of autism. Unfortunately, professionals have long overlooked this, focusing on the resulting behaviors instead of the underlying causes.” Therefore, challenging behaviors in individuals with autism may be a problem of emotional dysregulation due to problems in communication, chaotic environment situation, unexpected changes and confusion in the environment context, sleep deprivation, medical/dental discomfort (e.g. allergies, gastrointestinal issues), etc. Everyone is exposure to emotional dysregulation in some way when unexpected events occur and disrupt our routine. However, individuals with autism spectrum disorders are unique and more vulnerable than others. In order to address the emotional dysregulation we should understand its role in the behavioral presentation (Mayes, et al., 2015).

 

fmonegro-blogFrancisco Monegro currently serves as the residential Clinical Director of adult services programs at QSAC. He is also a consultant on autism for the PSCH clinic and the Shield Institute. Dr. Monegro received his MD/PhD in clinical psychology from the University of Santo Domingo/University of Kansas. In 1988, he received a diploma from the American Board of Medical Psychotherapists, Nashville, and from the International Academy of Behavioral Medicine, Counseling and Psychotherapy, Dallas, TX.

Severe Challenging Behaviors in Individuals with Autism: An Agenda for Readiness and Crisis Management

June 1, 2015 3:00 pm Published by

 

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Autism Spectrum Disorder (ASD) is a very complex neuro-developmental disorder characterized by impaired socialization, reduced communication and restricted, repetitive or stereotypical activities and interest. Autistic individuals may be affected by co-morbid organic and psychiatric conditions such as Intellectual Disability (ID), heterogeneous groups of epilepsy syndromes, sleep disturbance, sensory problems, and severe cognitive functioning deterioration, Impulse Control Disorder, Anxiety Disorder, and Mood Dysregulation Disorder. They may also experience behavioral crises with severe challenging behaviors such as aggression, self-injurious behaviors, property destruction and psychomotor agitation (Guinchat, et al. 2015, Gabriels, et al., 2012).

Unfortunately, in some individuals these challenging behaviors may persist despite behavioral interventions or the integrated approach of behavioral and pharmacological interventions. These behaviors not only place the autistic individuals and direct support professionals (staff) at risk of injuries, but lead to disappointments when their occurrence becomes refractory to the treatment plan. Due to acute behavioral decompensation during a crisis situation, a high percentage of autistic individuals require a visit to the psychiatric related emergency department (ED) of general or psychiatric hospital for an evaluation. Commonly, individuals with autism in acute crisis are treated palliatively in the psychiatric emergency department, denied admission, and discharged in less than 24 hours due to clinical and administrative issues and political exigencies (e.g. time constraints, productivity, not familiar with autism spectrum disorder, reimbursement, etc.) (Bauman, 2015; MarcosRosa, 1986).

Thus, according to Gabriels and colleagues (2012), there is a growing need to establish and evaluate innovative specialized healthcare programs for crisis management for individuals diagnosed with autism spectrum disorder (ASD) and/or intellectual disability (ID). Guinchat and colleagues (2015) suggest a systematic integrative multidisciplinary approach which should include a systematic search for comorbid medical and psychiatric conditions (e.g. seizure disorder and /or mood dysregulation) and a particular profile of these individuals [e.g. poor language skills or no language at all, etc]. This process would lead to a functional evaluation of the autistic individual and the formulation of a hypothesis regarding the cause of the acute behavioral state. Moreover, in their study, Johnson and colleagues (2005) demonstrate that the creation of a crisis resolution team (CRT) called to act during socially dysfunctional and deteriorating situations reduced the rate of emergency room visits. Yet another study conducted by Schoenvald and colleagues (2000), suggests that home-based multisystemic therapy (MST) prevented emergency psychiatric visits for crisis stabilization. Multisystemic therapy is a home-based therapy where masters-level therapists engage home members in identifying and changing individual, home, and environmental factors thought to contribute to problem behaviors.

In a cross-sectional study reported by Kalb and colleagues (2012), individuals with autism visit the psychiatric emergency department (ED) 13% times more than individuals without autism (2%). Thus, I would like to call for a discussion of an agenda of amalgamation of interventions where we can incorporate a multidisciplinary approach (functional behavior analysis, coping and replacement behavior skills such as written schedules, high-tech augmentative and alternative communication (AAC) devices in facilitating requesting skills in individuals with autism (ASD), social stories, sensory regulation items, sensory input activities), and/or a community-based psychiatric system of care (e.g. Telehealth (videoconferencing), which has potential to reduce barriers to access to psychiatric care  for individuals with autism spectrum disorder and to help divert psychiatry-related emergency department visits (Still, et al., 2014, Hepburn, et al. 2014, Drake, et al. 2012).

Saliva Test Could be a Biomarker in Autism Spectrum Disorder

March 16, 2015 3:00 pm Published by

At workshops with parents of individuals with autism, a question frequently asked is, “what caused autism?” Unfortunately, autism spectrum disorder is a very complex neurodevelopmental disorder with multifactorial inter-individual’s components. Scientists have identified different biomarkers associated with autism spectrum disorder such as levels of serotonin, oxytocin, melatonin, immune cytokines, genetic/genomic and epigenetic markers, lymphocyte subtypes, multiple neuropsychological and brain imaging parameters (Armand, et al. 2015; Ruggeri, 2013).

Armand and colleagues (2015) conducted a pilot study where they analyzed the salivary proteome (proteins produced by an organism) in individuals with autism spectrum disorder compared to a neurotypical control group. This pilot study found statistically significant differences in several salivary proteins in individuals with autism spectrum disorder which might be involved in immunological responses and inflammatory conditions. The proteins elevated in the sample group with autism are consistent with current theories of autism etiology. For instance, Lactoferrin [LTF], which might be implicated in the immune responses of the digestive system; Prolactin inducible protein, which is considered a biomarker for breast and prostate cancer and may also have immune system regulatory function, and Ig gamma-1 chain C region and Ig Kappa chain C region, which play a role in immunological and inflammatory conditions. Therefore, this pilot study supports the notion that elevated levels of inflammatory biomarkers are present in males with autism spectrum disorder. Obviously, more extensive studies are required to validate these findings.

IGF-1 May be a Predictor of Autism Spectrum Disorder

December 29, 2014 4:00 pm Published by

The CDC has established that 1 in 42 boys are diagnosed with ASD. Despite the adoption of new diagnostic criteria in DSM-5 in 2013, the percentage of patients qualifying as Autism Spectrum Disorder (ASD) has not changed; this data according to a Medscape survey. There are several studies that have tried to decode the etiology of Autism Spectrum Disorder to factors prior to the birth of a child.  Currently, the NIH has been supporting studies that explore Insulin-Like Growth Factor (IGF-1) as a predictor for autism. IGF-1 is synthesized in the liver and fibroblasts, and its dysregulation may be associated with Autism Spectrum Disorder. Defects of the IGF-1 gene have profound embryonic and postnatal growth retardation and IGF-1 concentrations are correlated with fetal size. Severe IGF-1 deficiency is associated with growth failure before and after birth, indicating that IGF-1 is critical for prenatal as well as postnatal growth and the individuals may also have profound sensorineural deafness and mental retardation as well as abnormal development of the central nervous system (Woods et al. 1996).

Dr. Steinman and Dr. Mankuta (2013) have focused on the correlation between serum level of IGF-1 in the fetus and newborn due to genetic, epigenetic, or environmental factors become a biomarker related with myelination in the brain of the future development of autism. Riikonen and colleagues 2006 found that insulin-like growth factors (IGF) -1 and -2 concentrations from cerebrospinal fluid (CSF) were significantly lower in children with ASD than in the comparison group. Because IGF-1 is important for the survival of Purkinje cells of the cerebellum, the authors concluded that low concentrations of IGF-1 in cerebrospinal fluid at an early age might be linked with the pathogenesis in autism.  Dr. Buxbaum, in a Mount Sinai Study, nine children (ages 5 to 15) with Phelan-McDermid syndrome and autism, found that IGF-1 treatment significantly improved social and repetitive behaviors when compared to the placebo (in deletions or mutations in the SHANK3 gene, which may play important role in autism). At the “18th Annual Seaver Center Advances in Autism Conference”, November 16, 2014, Dr. Kolevzon, clinical director of he Seaver Autism Center at Icahn School of Medicine at Mount Sinai, says that “we have a lot more to learn about the safety, tolerability and efficacy of IGF-1,” to treat individuals with Autism Spectrum Disorder and he suggested to wait for more findings before to use over-the-counter supplements containing a form of IGF.

According to Dr. Buxbaum, one of the objectives of this clinical trial is part of a paradigm shift to develop drugs to specifically treat the core symptoms of autism. This new approach stands in contrast to the use of medications such as Risperdal, Clozaril, Zyprexa, Seroquel, Abilify, Haldol and Geodon that were developed to manage other conditions.  Thus far, in controlled and open trial studies, the improvements of autism related symptoms such as aggression, impulsivity, self-injurious behavior, hyperactivity, irritability and repetitive behaviors by using the mentioned drugs have been found in 50% of cases.

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QSAC is a New York City and Long Island based nonprofit that supports children and adults with autism, together with their families, in achieving greater independence, realizing their future potential, and contributing to their communities in a meaningful way by offering person-centered services.

QSAC pursues this mission through direct services that provide a supportive and individualized setting for children and adults with autism to improve their communication, socialization, academic, and functional skills.