The document discusses the relationship between Autism Spectrum Disorder (ASD) and cerebellar functions. It notes that research has found correlations between cerebellar abnormalities and ASD, including a decrease in Purkinje cells in the cerebellum of ASD patients. Genetic studies also found that trinucleotide repeat expansions linked to fragile X syndrome can lead to cerebellar vermis abnormalities and symptoms like abnormal eye blinking and gait issues. The document also discusses how cerebellar abnormalities may impact social behaviors through effects on the amygdala, which is involved in emotional control and social responses.

1. CEREBELLAR FUNCTIONS IN
RELATION TO ASD

2. BACKGROUND INFORMATION
• Having a cousin with known Asperger’s Syndrome, which is currently
classified in the high functioning Autism Spectrum Disorder, I was always
curious as to how his cognitive functions and motor functions were
implicated as a result of such a condition.
• Noting this, I was intrigued to know more about the neurobiology of
people with ASD.

3. CEREBELLAR FUNCTIONS
• Prof Mason’s lectures on motor controls highlighted the cerebellum
coordinating motor controls and its potential effects on non-motor
related syndromes.
• I read up more about the relationship between ASD and Cerebellar
functions prompted by Prof Mason’s lectures and discovered a
relationship between the organ and visible symptoms displayed in
children with ASD, and came across a paper written by the department
of neuroscience in Baylor College of Medicine in Texas Children’s
Hospital and Department of Neurobiology, Geffen School of Medicine in
UCLA. It highlighted the effects of cerebellum on health and disease,
including ASD.

4. INTRODUCTION OF CONTENT
• From the research paper, it was noted that there was a correlation
between cerebellar abnormalities and ASD.
• It was noted that there was a notable decrease in Purkinje cells present
in the cerebellar of ASD patients, which recapped what Prof Mason’s
introduced about Purkinje cells present in the cerebellum and its
functions in maintaining motor controls.
• New information from content: Genetic studies noted the effects of
trinucleotide repeat expansion that leads to fragile X syndrome by
disrupting the function of the gene FMR1 leading cerebellar vermis
abnormalities. Such syndromes are represented by abnormal eye
blinking and gait ataxia.

5. PERSONAL REFLECTIONS
• In retrospect, looking at my cousin who is diagnosed with high-
functioning ASD, I realized the relationship between the cerebellum and
his own condition.
• From a personal perspective, he tends to walk on his toes, which could
represent a potential gait issue. Other motor functions such as running,
using utensils also appear abnormal potentially due to the relationship
between ASD and cerebellar disfunctions.
• This course has opened my eyes to the wonders and neurobiology,
prompting my curiosity to learn more about the topic. Without Prof
Mason’s prompt on Cerebellar development and ASD, I might not have
discovered the link between a developmental condition and the region
which was associated to motor coordination

6. CEREBELLUM AND AMYGDALA
• Cerebellar abnormalities such as the loss of En2 potentially lead to the
abnormal social behavioral development. (Kuemerle et al. 2007)
• It suggested that En2 gene disfunction resulted in abnormal positioning of the
amygdala which is highly related to emotional control and episodic memory
formation as mentioned by Prof Mason.
• The amygdala is also noted to play the role of “sensory gatekeeper” within the
social behavioral circuit. Lesions to the Amygdala due to cerebellar
abnormalities would likely impact the ability to connect social stimuli to
appropriate responses. This is evident especially in personnel's with ASD such
as the lack of eye focus when addressing other individuals.