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Is Autism A Rare Disease

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How Is Autism Treated

Autism News: Drug for rare disease could treat Autism symptoms

There is no cure for ASD. Therapies and behavioral interventions are designed to remedy specific symptoms and can substantially improve those symptoms. The ideal treatment plan coordinates therapies and interventions that meet the specific needs of the individual. Most health care professionals agree that the earlier the intervention, the better.

Educational/behavioral interventions: Early behavioral/educational interventions have been very successful in many children with ASD. In these interventions therapists use highly structured and intensive skill-oriented training sessions to help children develop social and language skills, such as applied behavioral analysis, which encourages positive behaviors and discourages negative ones. In addition, family counseling for the parents and siblings of children with ASD often helps families cope with the particular challenges of living with a child with ASD.

Is Autism A Disability

People with ASD show no outward signs that they have a developmental disability and with many differing manifestations of ASD is can be difficult for the public to understand. Parents find that people think their children and being naughty and are often faced with scathing looks and negative comments directed at them and adults find they are misunderstood, and that people do not know how to interact with them.

How Is Autism Diagnosed

Diagnosis of autism is based on standardized testing plus a clinical evaluation by an autism specialist. These professionals are usually psychologists, psychiatrists, developmental pediatricians, pediatric neurologists or medical geneticists.

The diagnosis of autism is made when there are a specific number of symptoms as defined by the Diagnostic and Standard Manual of Mental Disorders . Some commonly used diagnostic tests are the CARS , the ABC and the GARS . Formal diagnosis by an autism specialist usually depends on completing the ADOS , and ADI-R . The CHAT is often used in pediatrician’s offices to screen for autism symptoms.

When physical features, small head size or brain malformations are present or there is a family history of relatives with autism, genetic testing such as chromosome analysis and single-gene testing is done.

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What Is Autism Spectrum Disorder Previously Called Autism And Pervasive Developmental Disorders

Autism spectrum disorder is a neurodevelopmental disorder characterized by the following:

  • Difficulties in social communication differences, including verbal and nonverbal communication.
  • Deficits in social interactions.
  • Restricted, repetitive patterns of behavior, interests or activities and sensory problems

Many of those with ASD can have delayed or absence of language development, intellectual disabilities, poor motor coordination and attention weaknesses.

Rett Syndrome Symptoms And Their Stages

When Autism Meets Rare Disease  LuAF

Most cases of Rett syndrome are caused by a gene mutation. It is estimated that this disorder affects 1 in every 12,000 females, and less than 1% of cases are inherited.

Though there is no autism test that directly tells professionals whether or not someone is affected by Rett syndrome, there are a set of guidelines that people use to determine the diagnosis. These guidelines are broken up into 3 subtypes:

  • main
  • supportive
  • exclusion.

The main symptoms help determine whether or not the patient has Rett syndrome, supportive symptoms may help with a diagnosis, though dont directly point to the disorder, and exclusion symptoms are those that rule out the diagnosis.

Unfortunately, treating autism of this type is difficult. Anti-convulsant medications may be prescribed to help control seizures, while other treatments are available to help manage the most prominent symptoms. Physical therapy can help with mobility, while occupational therapy may help these girls be able to take care of themselves.

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From Autism To Rare Disease: One Familys Journey To An Unexpected Diagnosis

He had just turned two when he was diagnosed with Autism.

It was 2004, and Autism was rarely discussed in the pediatricians office. Still, Andrews missed milestones had begun piling up. His doctor was no longer able to ignore what was right in front of him: A child unable to speak or play with his toys or point to airplanes in the sky. A child who had lost what few vowels and consonants he had managed to string together before his first birthday.

Our child, whose chubby arms would begin flapping whenever he was excited or stressed. Gone was his eye contact, his beautiful blue eyes always seemingly fixed on something right past us. Gone too were the silly games we used to play together. His ability to reciprocate seemed to vanish into thin air overnight.

Pten Harmartoma Tumor Syndrome

PHTS is a description given to a spectrum of disorders found to have a mutation or change on their PTEN gene, this includes Cowden syndrome , Bannayan-Riley-Ruvalcaba syndrome , PTEN-related Proteus syndrome , and Proteus-like syndrome when they have a PTEN mutation.

The PTEN gene is responsible for stopping tumour growth by supressing any cells which are growing out of control. PTHS is a genetic autosomal condition. Meaning that one of the two copies of the PTEN genes required, has a fault, . This autosomal dominant manner means that each child of a PTHS patient has a 50% chance of inheriting the mutated gene from their parent.

The mutated gene results in the increase of cell growth causing tumours mainly of the skin, tongue and gums. Usually benign, these tumours rarely become malignant or metastasize and spread to other parts of the body. Also common are benign breast lumps, thyroid nodules/goitre, and uterine fibroids. Vascular malformations may also occur which may require surgical intervention and Macrocephaly is also common.

In a minority of adults, a benign tumour of the cerebellum called Lhermitte-Duclos disease develops and more recently colon polyps were seen in adults who had undergone an endoscopy or colonoscopy.

In approximately 20% of children with PHTS with Macrocephaly an additional diagnosis of Autism is recorded.

PHTS is not alone, within a growing number of neurodevelopmental rare disorders ASD is being recognised.

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What Is The Difference Between Autism And Autism Spectrum Disorder

The term autism was changed to autism spectrum disorder in 2013 by the American Psychiatric Association. ASD is now an umbrella term that covers the following conditions:

  • Autistic disorder.
  • Pervasive developmental disorder not otherwise specified .
  • Asperger syndrome.

People with ASD have trouble with social interactions and with interpreting and using non-verbal and verbal communication in social contexts. Individuals with ASD may also have the following difficulties:

  • Inflexible interests.
  • Insistence on sameness in environment or routine.
  • Repetitive motor and sensory behaviors, like flapping arms or rocking.
  • Increased or decreased reactions to sensory stimuli.

How well someone with ASD can function in day-to-day life depends on the severity of their symptoms. Given that autism varies widely in severity and everyday impairment, the symptoms of some people arent always easily recognized.

Rare Disease With Or Without Autism Symptoms

Batten Disease Misdiagnosed as Autism

If you have noticed certain characteristics in yourself or your child that may point to a rare disease or to autism, or if you have been referred for testing, have been considering getting tested, or have received abnormal results on your tests, you may wish to speak with a genetic counselor. A genetic counselor is professionally trained to understand and explain your results, direct you to services that may offer the support you need, and help you make informed decisions about your health or your childâs health.

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What Conditions Are Considered Spectrum Disorders

Until recently, experts talked about different types of autism, such as autistic disorder, Aspergerâs syndrome, pervasive developmental disorder not otherwise specified . But now they are all called âautism spectrum disorders

If you still hear people use some of the older terms, youâll want to know what they mean:

Asperger’s syndrome. This is on the milder end of the autism spectrum. A person with Asperger’s may be very intelligent and able to handle their daily life. They may be really focused on topics that interest them and discuss them nonstop. But they have a much harder time socially.

Pervasive developmental disorder, not otherwise specified . This mouthful of a diagnosis included most children whose autism was more severe than Asperger’s syndrome, but not as severe as autistic disorder.

Autistic disorder. This older term is further along the autism spectrum than Aspergerâs and PDD-NOS. It includes the same types of symptoms, but at a more intense level.

Childhood disintegrative disorder. This was the rarest and most severe part of the spectrum. It described children who develop normally and then quickly lose many social, language, and mental skills, usually between ages 2 and 4. Often, these children also developed a seizure disorder.

About The Crdc Initiative

The Children’s Rare Disease Cohort initiative at Boston Childrens Hospital fuels genomics research around 46 rare disease cohorts to expedite pediatric precision medicine. The information gathered supports our internal and collaborative research projects, and under certain circumstances, the data also can inform clinical treatment of participating families. Enrollment and sample collection can be completed from the comfort of your home.

The CRDC is an institution-wide initiative to better understand the molecular abnormalities associated with rare disease phenotypes. We envision this will allow more rapid diagnosis, in some cases personalized-treatment strategies with current medications, and identification of new targets that will facilitate development of new therapies for children with rare disease.

David Williams, MD, Boston Children’s Hospital Chief of the Division of Hematology/Oncology

We have developed a broadly sharable database and have engaged several external partners, including GeneDx, Genuity Science, Emedgene, and Clinithink. Within its first year, the CRDC launched 15 studies of rare pediatric-onset Mendelian diseases, including epilepsy and inflammatory bowel disease . Together, these studies enrolled 2,441 participants and collected data from medical records and research surveys.

NPJ Genomics Medicine

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Groundbreaking Experimental Compound Displays Effectiveness In Treating Symptoms Of Autism And Alzheimers Disease

Experimental compound, which has received orphan drug and pediatric rare disease designations from the FDA, displays effectiveness in treating symptoms of Autism and Alzheimers disease.

  • Researchers developed a novel model to assess the effect of this experimental drug on symptoms related to autism, intellectual disabilities, and Alzheimers disease, and found that a short protein segment called NAP remedies a broad spectrum of symptoms.
  • The symptoms that were remedied using NAP: slow development, poor communication, and brains with a relatively small number of synapses, low electrical activity, and protein aggregate similar to those found in Alzheimers patients.

An extensive international study led by Tel Aviv University found that an experimental drug which has been awarded orphan drug designation by the FDA for future treatment of a rare development disorder can also treat a variety of symptoms relating to autism, intellectual disability, and Alzheimers disease.

Prof. Illana Gozes. Credit: Jonathan Blum, Tel Aviv University

Reference: Novel ADNP Syndrome Mice Reveal Dramatic Sex-Specific Peripheral Gene Expression With Brain Synaptic and Tau Pathologies by Gidon Karmon, Shlomo Sragovich, Gal Hacohen-Kleiman, R. Anne McKinney, Moran Rubinstein and Illana Gozes, 27 September 2021, Biological Psychiatry.

Diagnosis Is Never Fun The Rare Disease Roller Coaster


Within moments of Bobbys birth, the room was way too quiet as I heard one nurse tell another that there was something wrong with my babys eyes. I always remember that moment as the life-changer. Never had we been more concerned with the here and now, never had we forgotten so many of the future hopes and dreams, as we did during that first month of Bobbys life.

My first time holding my baby, my sweet and beautiful baby boy with the head full of hair and soft, fine skin, I wasnt counting the fingers and toes, I was watching for him to open those eyes so I could see what was wrong with them. And when he finally scrunched his little face up and those eyes opened a little further I could see something. His eyes were almost completely white across the iris .

I remember that first month as a frantic whirlwind of appointments and disappointments. No one could tell us why our baby was virtually blind. After almost a month to the day, we walked into the specialists office and sat down, thinking it would be like the many visits before. But it wasnt.

You see, that day we received our first diagnosis. Our son had a rare disease, disorder, syndrome, something. Something was wrong with him, and we werent expecting that. We were expecting surgery, and even preparing for blindness, but a rare disorder? A genetic one? How why the answers to questions I couldnt even formulate would begin keeping me up nights, anxious to find answers.

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How Common Is Autism

In 2018, the Centers for Disease Controls Autism and Developmental Disabilities Monitoring reported that approximately 1 in 59 children in the United States has been identified with an Autism Spectrum Disorder . This estimate is a 14% increase from the 1 in 68 rate in 2016 and a 47% increase from the 1 in 88 rate in 2012. In the 1980s autism prevalence was reported as 4 in 10,000. In the nineties, prevalence was 1 in 2500 and later 1 in 1000.

It is problematic to compare autism rates over the last three decades, as the diagnostic criteria for autism have changed with each revision of the Diagnostic and Statistical Manual , which outlines which symptoms meet the criteria for an ASD diagnosis. In 1983 the DSM did not recognize PDD-NOS or Aspergers syndrome, and the criteria for autistic disorder were more restrictive. The previous edition of the DSM, DSM-IV, included autistic disorder, childhood disintegrative disorder, PDD-NOS, and Aspergers Syndrome. Due to inconsistencies in diagnosis and how much we are still learning about autism, the most recent DSM only has one diagnosis, autism spectrum disorder , which encompasses each of the previous four disorders. According to the new diagnostic criteria for ASD, one must have both deficits in social communication and interaction, and restricted repetitive behaviors, interests, and activities .

Clinical Implications And Future Perspectives

When autism was first described, it was hypothesized to be an environmentally caused disease. Decades of research have since revealed that autism is a highly heterogeneous and extremely complex genetic condition. Even though great progress had been made in identifying hundreds of risk genes, very little is known about the different types of modifiers that may exacerbate or ameliorate disease severity. Such modifiers could include epigenetics, sex-linked modifiers, CNVs, double-hit mutations, or environmental factors .

Figure 1. Genetic modifiers in autism spectrum disorder. Autism is estimated to be 4080% heritable. However, both genetic and non-genetic factors modulate the penetrance of risk genes, resulting in a highly heterogeneous disease phenotype for similar pathogenic variants. Examples of genetic modulators include CNV, epigenetics, and double-hit mutations. Examples of non-genetic modifiers include environmental exposures and sex-linked modifiers.

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What Is Meant By Spectrum

Although people with ASD may share similar difficulties it may also affect them in different ways and to differing severities. The way in which people with ASD learn, process information, read facial expressions, or cope with social situations and noise varies greatly from person to person. Each person with ASD has their own set of strengths and difficulties. Many people with ASD attend mainstream education, hold down employment and live independently whereas others may need specialist support.

Although not official terms, Autism is sometimes referred to as High Functioning or Low Functioning Autism.

He Was 16 When We Received The News

Rare genetic disorder Williams Syndrome can mimic autism advocates say its often diagnosed late

I will never forget sitting in the epileptologists office, watching as he held Andrews genetic report in his hands. He began reading, and my eyes blurred from the tears as I heard him say the words genetic variant, rare disease, and SynGAP1. I didnt know what any of it meant yet, but at that moment, I knew we finally had the answer we had been so desperate to find. The specialist handed me the report, and as I read the symptoms and clinical presentation of SynGAP,. It was like reading our sons developmental history as if someone had written nearly word of what we had witnessed and had been through over the years.

The missed milestones, the regression, even his clumsy gait was on there. For the first time in sixteen years, we had our childs complete diagnosis: he had a rare disease called SynGAP, and it caused his epilepsy, global developmental delay, intellectual disability, and Autism.

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How Is Autism Spectrum Disorder Treated

ASD is most often a life-long condition. Both children and adults with autism benefit from behavioral interventions or therapies that can teach new skills to address the core deficits of autism and to reduce the core symptoms. Every child and adult with autism is unique. For this reason, the treatment plan is individualized to meet specific needs. It is best to begin interventions as soon as possible, so the benefits of therapy can continue on throughout the course of life.

Many people with ASD often have additional medical conditions, such as gastrointestinal and feeding issues, seizures and sleep disturbances. Treatment can involve behavioral therapy, medications or both.

Early intensive behavioral treatments involves the entire family and possibly a team of professionals. As your child ages and develops, treatment may be modified to cater to their specific needs.

During adolescence, children benefit from transition services that promote skills of independence essential in adulthood. The focus at that point is on employment opportunities and job skill training.

Is Rett Syndrome An Asd

Children with Rett syndrome often have behaviors similar to autism, and experts used to group it among spectrum disorders. But now that itâs known to be caused by a genetic mutation, itâs no longer considered an ASD.

National Institute of Mental Health: “Autism Spectrum Disorders.”

National Institute of Neurological Disorders and Stroke: “Asperger Syndrome Fact Sheet.”

Journal of the American Academy of Child & Adolescent Psychiatry: âSpecifying PDD-NOS: A Comparison of PDD-NOS, Asperger Syndrome, and Autism.â

Psychiatric Clinics of North America: âThe autistic spectrum: subgroups, boundaries, and treatment.â

Spectrum: âReclassification of Rett syndrome diagnosis stirs concerns.â âWhat is Rett Syndrome?â

Autism Speaks: âAsperger Syndrome,â âAbout Autism: Why Was My Child Diagnosed with Autism? And What Does It Mean?â

Centers for Disease Control: âFacts About ASD.â

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