Effectiveness of Stem Cell Therapy in Autism Spectrum Disorders: Case Study of Identical Twins

Case Report

Austin J Autism & Relat Disabil. 2021; 7(1): 1057.

Effectiveness of Stem Cell Therapy in Autism Spectrum Disorders: Case Study of Identical Twins

Sandhya K¹* and Shobha HC²

¹Lecture Under Medical History, JSS Institute of Speech and Hearing, Karnataka, India

²Audiologist and Speech Language Pathologist, JSS Institute of Speech and Hearing, Karnataka, India

*Corresponding author:Sandhya K, Lecture Under Medical History, JSS Institute of Speech and Hearing, Near Tapovana, Kelageri, Dharwad, Karnataka, India

Received: August 19, 2021; Accepted: September 16, 2021; Published: September 23, 2021


Autism Spectrum Disorders (ASDs) is a neurodevelopmental disorder with immune system dysfunction. Recent year’s researches have exposed importance of cell based therapies, which were proposed and applied to ASDs as ASDs are considered to be a Neurobiological condition. Although a few studies show stem cell therapy as an active treatment, method for individuals with ASDs there is a lack of empirical evidences to confirm the effectiveness. A twin case study is presented who are diagnosed as having ASDs who had undergone Stem cell therapy treatment. The results of detailed Speech and Language evaluations and other treatments the children had undergone are the focus of present report. Precautions to be taken while choosing the right management option, which involves careful parental counselling are discussed.

Keywords: Stem cell therapy; Autistic spectrum disorders; Twin case study


Autism Spectrum Disorders (ASDs) are considered as an interesting neurodevelopmental disorders in the community of medical and scientific research, due to their multifactorial nature and numerous diverse descriptions for their clinical heterogeneity [1]. It is a cluster of developmental disability causes substantial social, communication and behavioral challenges. Currently, the global incidence is 12 per 1000 children [2]. According to DSM-V ASDs can be diagnosed based on these fundamental criteria i.e. Persistent deficits in social interaction and communication, repetitive, restricted patterns of behavior, activities or interests, clinically observable deficit in social, occupational, or functioning [3]. More than 1% of the general population is affected by ASDs [4]. Numerous researches have explained the contribution of genetic factors to the occurrence and development of the disorders [5]. Concordance rates among siblings range from about 3% to 14% whereas concordance rate of monozygotic twins have 72% of heritability of having Autism Spectrum Disorders [6].

The management of ASDs can be variable and multimodal. A group of conventional therapies namely early thorough behavior therapy, training on social skills, speech and language therapy, applied behavior analysis (ABA), occupational therapy associated with psychotropic drugs, transcranial magnetic stimulation [7], and alternative treatments [8], music therapy [9], cognitive and social behavioral therapy [10] have been observed as effective treatment method in the field ASDs. Amongst the advanced therapies available, gene therapy and stem cell therapy have shown abundant potential for treating ASDs [11].

Stem cell therapy, popularly known as regenerative medicine, which involves in the repair of unhealthy, dysfunctional or bruised tissue using stem cells or their derivatives [12]. The important types are fetal/ embryonic stem cells, bone marrow derived stem cells/ Adult stem cells and Umbilical cord stem cells. Fetal stem cells (FSCs) are found at several stages in the development of a human being, which can be obtained and isolated from different somatic organs of fetal blood, fetus, and several embryonic sources such as placenta, amniotic fluid, amniotic membrane, and umbilical cord [13]. Usage of adult stem cells are extracted from bone marrow, skin, dental pulp, adipose tissue and many other sources [14,15].

A study by [15] conducted an open label proof of concept of Bone Marrow Mononuclear Cells (BMMNCs) intrathecal transplantation in 32 patients with ASDs along with multidisciplinary therapies. Among the patients, 90.6% showed improvement in social relationships and reciprocity, 70% showed improved eye contact, social smile (56%) and so on. 75 % of the patients had an improvement in their Speech, language and communications skills, which included reduction in echolalia, stereotypic use of language etc. Simultaneously there was a great improvement noticed in behavioural patterns, sensory aspects, cognitive and functional aspects. On the other side 20% of the participants exhibited adverse effects such as increased hyperactivity, increased seizures, which were controlled by medications. Another open label pilot study [16] included a total of 45 children with ASDs (39 males, six females, mean age 6.9) where the safety of the use of FSCs were assessed among them. Children with ASDs treated with FSCs displayed improvement in eye contact, appetite, and socialization and exhibited no side effects or adverse events. Irrespective of having numerous studies showing positive effects of Stem cell therapy in the treatment of ASDs, there are also research evidences display adverse effects or no improvement in Speech and Language or behavior of individuals, which leads the professional to think over the effectiveness of Stem cell therapy in ASDs.

We present a case of monozygotic identical twins who are diagnosed as having ASDs and were subjected to Stem cell therapy. Details of Speech Language evaluation and their results, are presented with specific focus of consequences of Stem cell therapy as a tool in the management in them.

Case Presentation

Twins aged 5.5 years old male, approached JSS institute of speech and hearing, Dharwad with the complaint of limited speech output and behavioral issues. Both the children are known cases of ASDs with the symptoms of delay in language, unusual behaviors such as Hyperactivity, Excessive shouting, head banging, rolling on the floor, fidgeting, vacant staring ,hand flapping etc. affected play behavior ,low tolerance for sitting and affected social interaction.

Medical history

Children were born as consanguineous union, delivered via c - section at 7th months of pregnancy. Maternal age was 30 years. Mother reported to have low Blood Pressure during delivery. Peri- natal complications included Hypoxia, low birth weight of 1.4kg due to which they were placed in incubatory for 20 days under observation. They had no history of convulsions. There is no family history of ASD or any psychological illness in the family.

Magnetic Resonance Imaging- Diffusion Tensor Imaging (MRIDTI), and Positron Emitted Tomoraphy-Computed Tomography (PET-CT) were carried out to examine the neurological abnormalities. MRI-DTI impressions suggested no focal abnormality in brain parenchyma. PET-CT brain report impression read as bilaterally severely hypo metabolic areas involving medial temporal cortices and cerebellar hemispheres. Electroencephalogram (EEG) showed no evidence of focal or generalized epileptiform activity.

Children were born as consanguineous union of parents. This is a pedigree chart (Figure 1) showing three generations of the family. This displays Autosomal recessive type of gene inheritance with history of twin running in the family, where the marked blocks are the affected twins.

Citation: Sandhya K. Effectiveness of Stem Cell Therapy in Autism Spectrum Disorders: Case Study of Identical Twins. Austin J Autism & Relat Disabil. 2021; 7(1): 1057.