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What is Autism Spectrum Disorders?

Autism is a developmental disorder that affects social behavior, communication and interaction of an individual. It is characterized by impairments in speech, verbal and non-verbal communication, and emotional development. It also includes presence of repetitive and stereotypical behaviors. Autism can be different combination of different symptoms and the severity of symptoms, functional independence of children and individuals can be different. Therefore it is a spectrum of disorders rightly coined as the term Autism Spectrum Disorders (ASD).

Generally, parents notice signs of ASD very early before age 2 or 3. Mostly, motor milestones develop normally but delays can be observed. Parents might notice delays in speech and interactions or sometimes the speech develops but regresses thereafter.

There are several genetic and environmental causes of ASD. There are studies being conducted to find out the exact genetic markers or causes of ASD. But unfortunately, we currently don't have an exact answer. Some environmental causes like air pollution can cause heavy metal accumulation which contributes to ASD. Another theory suggests lack of oxygen immediately after birth.

Causes of ASD

The early signs of ASD are lack of responsiveness! The child does not respond to his/her name or attempts to make eye contact. He/she does not try to imitate our actions, speech or facial expressions. Speech delay and lack of interaction are also observed. Some children show regression in symptoms. They show normal development till a certain age and then regress in terms of speech, eye contact and interactions, and learning. Many parents feel like the child is "lost in his own world". They seem unconnected to others even their family.

Signs of ASD

The Centers for Disease Control and Prevention (CDC) estimates ASD's prevalence as 1 in 68 children in the United States in 2014. This includes 1 in 42 boys and 1 in 189 girls. Certain medical and mental health issues frequently accompany ASD. They include gastrointestinal (GI) disorders, seizures, sleep disturbances, attention deficit and hyperactivity disorder (ADHD), anxiety and phobias. Incidence and prevalence of autism is increasing day by day.

Prevalance of ASD

ASD is diagnosed on the basis of clinical symptoms. There are no diagnostic tests for ASD. Impairment in mainly 3 areas that is social interaction, repetitive behavior and impaired verbal as well as non-verbal communication is essential for the diagnosis. ASD is usually diagnosed by family physicians or pediatricians. The school teacher or primary caregiver might recognize these signs and consult their family doctor. The child is later referred to a psychologist who does a clinical evaluation including psychometric tests and observations to diagnose ASD.

Major affected areas in ASD

There are no curative treatments available for ASD. Management of the disorder is mainly through symptomatic medication. Traditional medical treatment options include medicines to manage the symptoms of ASD such as hyperactivity and lack of attention. Rehabilitation therapies form the mainstay of the treatment in Autism. Applied Behavior Analysis, Occupational Therapy, Speech Therapy, Special Education, etc. are useful to enhance the functioning of persons with ASD and improve their quality of life. But, none of these treatments address the core pathology of ASD. None of these treatments provide a cure for the disease.

Therefore there is a need for treatment strategies that can have an effect on the core disease pathology and help reduce the symptoms of ASD. In the recent years stem cell therapy has shown positive results to alter the core pathology as well as provide symptomatic improvement in children and adults with Autism.

ASD is a complicated neurodevelopment disorder. Several studies have tried to understand the causes of ASD and what happens in the brain when an individual has ASD.

Role of brain in ASD

 

Recent studies have indicated that the lack of oxygen supply to the brain during or after birth and immune deregulation are the two important factors associated with ASD. These factors may result in decreased functioning of the brain or irregularities in the brain. This can cause an overarching imbalance in the brain which could get manifested as the carious symptoms of ASD.

As brain functioning is heavily involved in ASD, scientists and researchers have started looking at regenerative therapy using stem cells as potential therapy for ASD. Stem cells have the capability to multiply into many cells and form specialized cells different from the mother cell. This regeneration of cells can help in repairing the damaged brain tissue. Stem cells have the potential to repair the affected neural tissue at the molecular, structural and functional level. They are known to address the core of neuropathology of ASD with the help of their unique paracrine regulatory functions that are capable of regulating cell differentiation, tissue and organ repair, neurotrophic and anti-inflammatory actions in the recipient.

Stem Cell Therapy in ASD

Stem cell therapy results in several remarkable improvements in various symptoms of ASD. Hyperactivity and engaging in stereotypical and repetitive motor mannerisms decrease significantly. Sensory and motor functioning improves. Improvements are seen in concentration and the attention span of their children. The overall improvements that are seen in patients after stem cell therapy are:-

  • Reduction in self stimulatory behavior
  • Improvement in eye contact
  • Improvement in speech
  • Improvement in speech and communication skills
  • Improvement in social interactions
  • Reduction in aggressive and self-injurious behavior

Benefits of Stem Cell Therapy

 

These functional enhancements can be seen in PET-CT Scans. Changes in clinical symptoms can be co-related with the improvements in the brain metabolism as well that is observed in the PET-CT (Positron emission tomography-computerized tomography) scans.

PET scan improvements

 

Pre Stem cell treatments PET CT scan show the blue areas that represent reduced brain activity due to the damage that occurs to the neural tissue in ASD.

Post Stem Cell Treatment PET CT scan show the blue areas have reduced indicating that the damaged tissues have been repaired highlighting the positive effects of the stem cell therapy.

 

Stem Cell therapy using autologous bone marrow derived MNC's has shown significant clinical and objective radiological improvements in children with ASD. It is simple, safe and effective treatment modality as it focuses on neurological repair. It gives a new life to these children and helps integrating them back into society.

PET Scan improvements after stem cell therapy.

Q1) What is the cause of ASD?

Parents of children with ASD usually have common questions when they consult their developmental pediatrician or child psychiatrist:

  • How did our child develop ASD?
  • My child was hale and healthy and had even started to speak a few words. Then, what happened suddenly?
  • So, is ASD acquired?
  • Does it happen after the child is born?
  • Could it have been prevented?
  • Is it genetic?
  • Can the other children also have ASD?
  • Has it come from "us", the parents?

The answer to these questions is - several research studies are going on to explore all possible reasons of Autisjm. Some combination of genetic, biological and environmental factors is believed to cause ASD. Researchers are now however exploring several genes which are believed to contribute to the development of these disorders as well as several brain regions that have been linked to the disorders.

Q2) Why does my child have ASD?

Our child might have ASD because of some combination of these reasons. There might be a genetic reason or some biological or environmental factor that might have lead to your child having ASD.

Q3) Is ASD genetic?

Genetic factors is a major factor considered to the cause for ASD spectrum disorders. Heritability was established, very early, by studying occurrence of ASD in twins. Explaining occurrence of ASD, purely on the basis of genetics is a very complex task. Though various molecular tools and analytical tools (such as linkage analyses, association analyses) have been tried to be used, but nothing very conclusive has emerged. Since, more than one gene has been implicated or found to be involved, a simple arithmetic or cause and effect, cannot be established. Researchers are also exploring the effects of genetic imprinting in which a gene's expression is determined by which parent donates the gene copy. However, still there are no definitive answers to this question.

Q4) Will my other child also have ASD?

Researchers from Aarhus University in Denmark have reported in a journal JAMA Pediatrics that children with an older brother or sister diagnosed with an ASD spectrum disorder are more likely to be on the spectrum themselves. Siblings who shared the same mother and father had a 7.5 greater risk of having ASD, whereas maternal half siblings had a 2.4 greater risk. Paternal half siblings didn't have a statistically significant increase in risk. Hence it's important that parents who already have a child diagnosed on the spectrum should be alert if they are thinking about another kid. They should inform the doctor about their family history before conceiving another child and should take precautionary measures such as taking prenatal folic acid and avoiding overexposure to toxins.

Q5) Is there a cure for ASD?

There is no known 'cure' for ASD. This does not mean, however, that nothing can be done for an individual with ASD. There are medications and therapies that can help people with ASD function better. For example, medication might help manage high energy levels, inability to focus, depression, or seizures and behavior therapy can help parents manage the difficult behaviors in their child.

Q6) Can medications cure ASD?

No, medicines cannot cure ASD. However, medicines can help manage various symptoms of ASD. You should consult a developmental pediatrician or a psychiatrist if your child has difficulty controlling aggression, is displaying self-injurious behaviors, throwing temper tantrums, repetitive behaviors or quickly changing moods. Treatment of symptoms is very important as they limit the quality of life of people with ASD, their families and caregivers. Once the symptoms are controlled with medications, there is a better scope for benefit from multidisciplinary interventions like Applied Behavior Analysis, Occupational therapy, psychological therapy, speech therapy, vocational training, etc.

Q7) Which school should my child attend? Special or normal school?

A common dilemma that bothers several parents of children with ASD is that of their child's formal education. Due to lack of clear cut guidelines, parents are unable to decide what type of schooling system is best for their child. Currently, the number of schools providing education to children with ASD is severely limited as compared to the need.

Broadly speaking schools may be categorized into the following:

  • Mainstream or Regular,
  • Inclusive or Integrated,
  • Special services schools,
  • Home-schooling,
  • Residential schools or homes.

Children with ASD generally have a very tough time with large groups, loud, stimulating settings, and poorly managed transitions. As the child grows older a typical classroom can be very challenging. The one to one type of schooling is best suited for children with ASD. As they grow older and their skills improve, the child can be transitioned into a normal classroom or inclusive classroom.

Q8) Is there any treatment or therapy available for my child?

As parents, you may frantically look for all possible treatment options for your child. Your search may give you several options which may further confuse you or create more doubts. With help from your developmental pediatrician, you may be able to identify the problems in your child and decide about the early intervention plan. Early identification has increased in importance, as many studies have found that children with ASD's who receive services prior to 48 months of age make greater improvements than those who enter treatment programs after 48 months of age. Management in ASD calls for a Multi-disciplinary holistic approach. A multi-disciplinary team consists of:

  • Clinical Psychologist
  • Occupational therapist
  • Speech and language pathologist
  • Dietician
  • Physiotherapist
  • Art, play, music, drama therapist

Each of the above professionals will target different aspects in the treatment of your child.

There are newer forms of therapies also which have been proven to be very effective like Stem Cell Therapy, Hyperbaric oxygen therapy (HBOT), etc.

Q9) Are there ethical concerns surrounding adult stem cell research and therapy?

Bone marrow transplantation has been used successfully for genetic disorders of blood, such as sickle cell anemia, thalessemia, as well as cancers such as leukemia. Since our therapy uses these very cell, which are harvested from the patient's own body (autologous cells), there are no major ethical concerns. Ethical concerns are primarily on the use of embryonic stem cells (which we do not use).

Q10) Does the treatment have any side effects?

Stem cell therapy is minimally invasive and reasonably safe. None of our patients have shown any neurological deterioration so far in connection with the stem cell therapy itself. Some side effects, such as headache (spinal headache) lasting 3-4 days which is generally self limiting, neck/back pain, vomiting, some mild rash or pain at the site of bone marrow aspiration/stem cell injection may occur. However, like any other medical or surgical treatment unexpected complications are always a possibility. These complications may be related to the medicines given, the stem cell procedure, the anesthesia, and the rehabilitation or to any of the preexisting medical or neurological conditions.

Q11) How long will it take me to know that I have benefitted from the treatment?

Maximal improvements are seen around 3-6 months after the treatment. However, in many patients there are slow progressive improvements that continue for several months/years later. Most patients do show some immediate improvements also i.e. before the discharge, in some of their symptoms.

Q12) Is the transplantation of the stem cells done once or more than once?

The decision to do the therapy a second time is taken after seeing the progress/improvements after the first therapy. If the patients show some encouraging improvement, then the case is reviewed by the entire medical and rehabilitation team. Certain special imaging tests, such as PET CT Scan of the brain, would be repeated and then a second treatment may be recommended. This may be done anytime between 3-6 months of the first therapy.

Q13) Can other treatments be taken at the same time?

We will review what other medications the patient is already on. In most cases we do not discontinue any already going on treatment. However this is decided on a case by case basis. Please inform us about any medications you are taking beforehand.

Q14) What are the improvements expected after Stem Cell Therapy?

At NeuroGen BSI we have successfully treated over around 800 cases of ASD. We have published the world's first clinical study of 32 patients in the International Journal "Stem Cell International". The results published in this pathbreaking paper demonstrated that stem cells are safe and efficacious in ASD.

Within the first three-six months, our patients show improvements in social relationships, emotional responsiveness, speech and language, communication, behavior patterns, reduced hyperactivity, repetitive motor mannerisms, sensory problems and attention and concentration.

Our data is regularly published in various medical and scientific journal(available for reading on our website) . You are strongly advised to study these before proceeding with treatment.

Q15) How does stem cell therapy work?

The biological task of stem cells is to repair and regenerate damaged cells. Stem cell therapy exploits this function by administering these cells in high concentrations directly in and around the damaged tissue, where they advance its self healing and repair.

Q16) Is the treatment painful?

The therapy is done under local anesthesia and a mild sedation. There is no significant pain or discomfort during or after the procedure.

Case report 1

Master LV is a 11 years old child with ASD from London, UK, who first came to India for stem cell therapy 2 years back. L V was diagnosed to have ASD, when he was 4 and a half years old. In the UK he received the best treatment as well as rehabilitation therapies available. However, for almost 5 years, parents did not find any improvement in him.

He had the following symptoms- Poor social interaction, fleeting eye contact, inappropriate emotional responses like irrelevant laughing and crying without any reason, motor mannerisms like finger fidgeting, rocking etc. smelling objects, presence of unusual noises, fearful of loud noises, weak fine motor skills, poor - fair perceptual and cognitive skills. After undergoing stem cell therapy he has shown remarkable improvements in perpetual and cognitive skills like better eye contact, increased attention span and increase in general awareness. Improvement in sensory problems and motor mannerisms have reduced in public places. His social interaction and communications are better now. He has become more independent in activities of daily living. His learning and comprehension have improved tremendously, such that now he is able to solve a 100 piece puzzle in less than 5 minutes!! A child who had low tone and severe imbalance issues, can now skate like a professional!

All this has been possible only after stem cell therapy. LV'S life has changed for the better.

'Great improvements in a 6 year old boy'

 

A M. is a 6 year male diagnosed with ASD. When they came to NeuroGen in October 2016 to undergo Stem cell therapy, he had significant impairments in eye contact, cognitive abilities, socialization, speech, self- help skills, and sitting tolerance. Mother reported that his emotional responses were excessive in terms of irrelevant laughing. He engaged in smelling objects and mouthing objects. He had tactile, vestibular, proprioceptive, auditory, and olfactory hyposensitivity to sensory inputs. He would tap or bang objects, run around the room, and climb on furniture. He had vocal stimming and would keep saying or humming all the time. His speech was not age-appropriate and was unclear. His parents and other caregivers would understand him but it was difficult for a new person to understand what he was saying. He would communicate mostly in 1 or 2 words phrases. Another major issue was that he would stay aloof and not interact with his classmates. He could not interact correctly with them. He was dependent for his self help skills and was not toilet trained. His assessment test scores also indicated moderate severity of ASD. On the Indian Scale for Assessment of ASD (ISAA), his score was 115 while his Childhood ASD Rating Scale (CARS) score was 33 which indicates moderate level of ASD.

They came back to NeuroGen Afte 6 months for a second shot of Stem Cell Therapy. He showed significant improvements in this duration. He could now follow 2 or 3 step commands, He would stay with his mother and not elope in public place which used to a be a great safety concern for his family while going out in public places. His attention and focus had improved. He had started showing some interest in other children and would now follow his peers around. His play skills had improved. He did learn to wait in line for his turn.

His emotional understanding improved. He started reading facial expressions and reacting appropriately to other which gave parents a sense that he could now "connect" better with them. His hyperactivity reduced and he could sit longer for non-preferred activities. His irrelevant laughter decreased. His running around the room, jumping, banging and throwing things, and vocal stereotypical behaviors reduced. His mouthing behavior completely stopped. Academically, his reading improved namely, he could read 2 letter words. He learnt to identify numbers upto 25. He developed interest in painting. He became more independent in bathing and dressing. His fine motor skills improved due to which he started buttoning his shirt. In terms of eating, his would eat more variety of food. He started choosing and showing his preference with what he wants to eat.

In terms of scres and objective data, ISAA score showed a marked reduction from 115 to 76. CARS score reduced from 33 to 30. These scores show that there were amazing improvements after Stem Cell Therapy and he was more independent.