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Cognitive disabilities, Schizophrenia and Anxiety Disorder
1. Cognitive
Disabilities,
Schizophrenia and
Anxiety Disorder
Submitted By – Omedul Mondal
3rd Semester M.Sc. Applied
Genetics. Subject
- MGE- 303: HUMAN GENETICS
Reg. No.-20IAMOS007
Submitted to – Dr. Vanitha G Head
Of the Department of Genetics
Indian Academy Degree College
Department of Genetics
2. DISABILITIS
• A disability is any condition that makes it more
difficult for a person to do certain activities or
effectively interact with the world around them
(socially or materially).
• According to the World Report on Disability, 15% of
the world's population or 1 billion people are
affected by disability.
SYMBOL
3. TYPES OF
DISABILITIES
PHYSICAL
DISABILITIES
Acquired brain
injury
Spina bifida
Spinal cord
injury (SCI)
Cerebral palsy
MENTAL
DISABILITIES
Anxiety
disorders
Schizophrenia
Depression
Bipolar disorder
INTELLECTUAL
DISABILITIES
Fetal alcohol
spectrum
disorder (FASD)
Developmental
delay
Fragile X
syndrome
Down syndrome
SENSORY
DISABILITIES
Autism
spectrum
disorder (ASD)
Sensory
processing
disorder
Hearing loss and
deafness
Blindness and
low vision
COGNITIVE
DISABILITIES
5. What is Cognitive Disability?
• Cognitive disability is a term applied when an individual has some specific
limitations in his/her mental functions and abilities (like social skills, learning, self-
help, communication, etc.). The cognitive disability is also called intellectual
disability.
• These disabilities can slow down the learning and developing process of a child
than a normal child. Cognitive disabilities may cause due to a brain abnormality,
genetic disorder, illness, or an injury. They can identify with standardized
intelligence and adaptive behavior tests.
• People with cognitive impairment may have impaired motor, social, or learning
skills that may decrease their performance in the workplace ;the memory loss for
short- or long-term, Difficulty with speaking, writing, and reading ;Problems with
orientation ;Diminished or distractibility attention period ;Disability to express
oneself, like finding the precise words in a conversation ;Disability to resolve
problems ;Cognitive disabilities range from less serious disabilities (like attention
deficit and dyslexia disorder) to more serious disabilities (like hereditary diseases
and brain damage).
6. 1) Dyslexia
• Dyslexia is a most common type of cognitive disability which is
disability of language learning.
• According to a survey, around 15% to 20% of people have a
language learning disability.
• Dyslexia disabilities include trouble of deciphering a single word,
insufficient speech processing performance.
• Problems may include difficulties in spelling words, reading quickly,
writing words, "sounding out" words in the head, pronouncing
words when reading aloud and understanding what one reads. Often
these difficulties are first noticed at school.
• Dyslexia is divided into developmental and acquired forms.
Developmental dyslexia, i.e., dyslexia that begins in early childhood.
Acquired dyslexia occurs subsequent to neurological insult, such as
traumatic brain injury or stroke.
7. • In early childhood, symptoms include delayed onset of speech and a lack
of phonological awareness.
• School-age children with dyslexia may exhibit signs of difficulty in
identifying or generating rhyming words, or counting the number of
syllables in words–both of which depend on phonological awareness.[ They
may also show difficulty in segmenting words into individual sounds or may
blend sounds when producing words, indicating reduced phonemic
awareness.
• Difficulties with word retrieval or naming things is also associated with
dyslexia. People with dyslexia are commonly poor spellers, a feature
sometimes called dysorthographia or dysgraphia, which depends on
orthographic coding.
• Abnormal cortical development, presumed to occur before or during the
sixth month of fetal brain development, may have caused the
abnormalities. Abnormal cell formations in people with dyslexia have also
been reported in non-language cerebral and subcortical brain structures.
Several genes have been associated with dyslexia, including DCDC2 and
KIAA0319on chromosome 6, and DYX1C1 on chromosome 15.
8.
9.
10.
11.
12.
13.
14.
15.
16. Fidgeting is making
small movements with
your body, usually your
hands and feet. It's
associated with not
paying attention, and
often reflects
discomfort and
restlessness.
17. 2) Attention Deficit Hyperactivity Disorder
(ADHD)
• ADHD is a disease that affects a person’s skills such as paying attention,
standing still, and focusing. Due to this disability, a person may find it
difficult to focus on work or topics, or he may act irresponsibly.
• This type of cognitive disability starts in childhood but can’t be identified
until adulthood or adolescence.
• A person with ADHD may face problems doing homework or work from
home and jump from one activity to another.
• People having ADHD may also forget to perform homework or any other
work that they decide to perform. Such a person may make unintended
mistakes or feel problems to pay attention on his work
• People with ADHD can face difficulties to arrange their tasks and activities
and disturb others. Such people may talk too much, feel restless or fidget.
18.
19.
20.
21.
22. 3) Brain Injury
• The brain damage or injury may cause due to different reasons such as
meningitis, brain tumors, TBI (traumatic brain injury), illness, or stroke, etc.
• Every brain injury is unique; There is no trustworthy method to predict
how a specific injury can affect a person’s brain. When a specific injury
damages a person’s brain, a healthcare provider performs a variety of
neurological and psychological tests to identify the damaged area of the
brain.
• Some injuries have minor brain damage and behavioral effects. In contrast,
other brain injuries have severe effects on the brain. The severity of brain
damage determines the outcome of a person’s skill to process information.
23. 4) Genetic Disability
• These types of cognitive diseases affect people individually.
Dementia, Autism, and Down syndrome are examples of genetic
disability.
• Some people with these limitations have the capability to work at a
higher level compared to others.
• For example, a person with the syndrome can spend his life
independently at a sufficiently high level, while another person with
Down syndrome may require continued help with his daily life
activities. The more difficult it is for a person to experience cognitive
impairment, the more complex it is for an individual to understand.
24. 1.Insufficient
understanding of
social rules
Significant delays in
motor skills, like
walking or talking
slower than other
children
1.Bad problem-solving
abilities.
1.Speaking problems
1.Incapability to
recognize the results
of actions.
1.Bad memory
Signs of Cognitive and Intellectual Disabilities
25.
26. Treatment
• Currently, no drugs or other treatments are approved specifically for
mild cognitive impairment (MCI) by the Food and Drug Administration
(FDA). However, MCI is an active area of research. Clinical studies are
underway to better understand the disorder and find treatments that
may improve symptoms or prevent or delay progression to dementia.
• Study results have been mixed about whether diet, exercise or other
healthy lifestyle choices can prevent or reverse cognitive decline.
• Some supplements including vitamin E, ginkgo and others have been
suggested to help prevent or delay the progression of mild cognitive
impairment.
28. • Schizophrenia is a mental disorder characterized by continuous or relapsing episodes of
psychosis.
• Schizophrenia is a serious mental illness that affects how a person thinks, feels, and
behaves. People with schizophrenia may seem like they have lost touch with reality,
which causes significant distress for the individual, their family members, and friends.
• If left untreated, the symptoms of schizophrenia can be persistent and disabling.
However, effective treatments are available. When delivered in a timely, coordinated, and
sustained manner, treatment can help affected individuals to engage in school or work,
achieve independence, and enjoy personal relationships.
https://www.youtube.com/watch?v=xbagFzcyNiM
https://www.youtube.com/watch?v=PURvJV2SMso
https://www.youtube.com/watch?v=K2sc_ck5BZU
29.
30. Onset and Symptoms
• Schizophrenia is typically diagnosed in the late teen years to the
early thirties and tends to emerge earlier in males (late
adolescence – early twenties) than females (early twenties – early
thirties).
• A diagnosis of schizophrenia often follows the first episode of
psychosis, when individuals first display symptoms of
schizophrenia. Gradual changes in thinking, mood, and social
functioning often begin before the first episode of psychosis,
usually starting in mid-adolescence.
• Schizophrenia can occur in younger children, but it is rare for it to
occur before late adolescence.
32. • Psychotic symptoms include altered perceptions (e.g., changes in
vision, hearing, smell, touch, and taste), abnormal thinking, and odd
behaviors. People with psychotic symptoms may lose a shared sense
of reality and experience themselves and the world in a distorted way.
• Specifically, individuals typically experience: Hallucinations, such as
hearing voices or seeing things that aren’t there
• Delusions, which are firmly held beliefs not supported by objective
facts (e.g., paranoia - irrational fears that others are “out to get you”
or believing that the television, radio, or internet are broadcasting
special messages that require some response)
• Thought disorder, which includes unusual thinking or disorganized
speech
33. • Negative symptoms include loss of motivation, disinterest or lack of
enjoyment in daily activities, social withdrawal, difficulty showing
emotions, and difficulty functioning normally.
• Specifically, individuals typically have: Reduced motivation and
difficulty planning, beginning, and sustaining activities
• Diminished feelings of pleasure in everyday life
• “Flat affect,” or reduced expression of emotions via facial expression
or voice tone
• Reduced speaking
34. • Cognitive symptoms include problems in attention, concentration,
and memory. For some individuals, the cognitive symptoms of
schizophrenia are subtle, but for others, they are more prominent and
interfere with activities like following conversations, learning new
things, or remembering appointments.
• Specifically, individuals typically experience: Difficulty processing
information to make decisions
• Problems using information immediately after learning it
• Trouble focusing or paying attention
35. Risk Factors:
Genetic Factor
• Estimates of the heritability of schizophrenia are between 70% and 80%,
these estimates vary because of the difficulty in separating genetic and
environmental influences.
• The greatest risk factor for developing schizophrenia is having a first-degree
relative with the disease (risk is 6.5%); more than 40% of identical twins of
those with schizophrenia are also affected. If one parent is affected the risk
is about 13% and if both are affected the risk is nearly 50%.
• Many genes are known to be involved in schizophrenia, each with small
effect and unknown transmission and expression. The summation of these
effect sizes into a polygenic risk score can explain at least 7% of the
variability in liability for schizophrenia. Around 5% of cases of schizophrenia
are understood to be at least partially attributable to rare copy-number
variations (CNVs); these structural variations are associated with known
genomic disorders involving deletions at 22q11.2 (DiGeorge syndrome) and
17q12 (17q12 microdeletion syndrome), duplications at 16p11.2 (most
frequently found) and deletions at 15q11.2 (Burnside-Butler syndrome.
36. Environmental factors
• Environmental factors, each associated with a slight risk of developing schizophrenia in later
life include oxygen deprivation, infection, prenatal maternal stress, and malnutrition in the
mother during prenatal development.
• A risk is also associated with maternal obesity, in increasing oxidative stress, and
dysregulating the dopamine and serotonin pathways. Both maternal stress and infection
have been demonstrated to alter fetal neurodevelopment through an increase of pro-
inflammatory cytokines. There is a slighter risk associated with being born in the winter or
spring possibly due to vitamin D deficiency or a prenatal viral infection. Other infections
during pregnancy or around the time of birth that have been linked to an increased risk
include infections by Toxoplasma gondii and Chlamydia. The increased risk is about five to
eight percent. Viral infections of the brain during childhood are also linked to a risk of
schizophrenia during adulthood.
• Adverse childhood experiences (ACEs), severe forms of which are classed as childhood
trauma, range from being bullied or abused, to the death of a parent. Many adverse
childhood experiences can cause toxic stress and increase the risk of psychosis. Chronic
trauma can promote lasting inflammatory dysregulation throughout the nervous system. It
is suggested that early stress may contribute to the development of schizophrenia through
these alterations in the immune system. Schizophrenia was the last diagnosis to benefit
from the link made between ACEs and adult mental health outcomes
• Factors of importance include social isolation, immigration related to social adversity and
racial discrimination, family dysfunction, unemployment, and poor housing conditions.
Having a father older than 40 years, or parents younger than 20 years are also associated
with schizophrenia.
37. • About half of those with schizophrenia use recreational drugs,
including cannabis, tobacco, and alcohol excessively.
• Use of stimulants such as amphetamine and cocaine can lead to a
temporary stimulant psychosis, which presents very similarly to
schizophrenia.
• Rarely, alcohol use can also result in a similar alcohol-related
psychosis. Drugs may also be used as coping mechanisms by people
who have schizophrenia, to deal with depression, anxiety, boredom,
and loneliness.
• The use of cannabis and tobacco are not associated with the
development of cognitive deficits, and sometimes a reverse
relationship is found where their use improves these symptoms.
However, substance use disorders are associated with an increased
risk of suicide, and a poor response to treatment
39. • Antipsychotic medications can help reduce the intensity and frequency of
psychotic symptoms. They are usually taken daily in pill or liquid forms. Some
antipsychotic medications are given as injections once or twice a month, which
some individuals find to be more convenient than daily oral doses. Patients
whose symptoms do not improve with standard antipsychotic medication
typically receive clozapine. People treated with clozapine must undergo routine
blood testing to detect a potentially dangerous side effect that occurs in 1-2% of
patients.
• side effects such as weight gain, dry mouth, restlessness, and drowsiness when
they start taking these medications. Some of these side effects subside over
time, but others may persist, which may cause some people to consider
stopping their antipsychotic medication.
• Assertive Community Treatment (ACT) is designed especially for individuals
with schizophrenia who are at risk for repeated hospitalizations or
homelessness. The key elements of ACT include a multidisciplinary team,
including a medication prescriber, a shared caseload among team members,
direct service provision by team members, a high frequency of patient contact,
low patient to staff ratios, and outreach to patients in the community. ACT
reduces hospitalizations and homelessness among individuals with
schizophrenia.
40. • Cognitive behavioral therapy, behavioral skills training, supported employment, and cognitive
remediation interventions may help address the negative and cognitive symptoms of schizophrenia. A
combination of these therapies and antipsychotic medication is common. Psychosocial treatments can
be helpful for teaching and improving coping skills to address the everyday challenges of
schizophrenia. They can help people pursue their life goals, such as attending school, working, or
forming relationships. Individuals who participate in regular psychosocial treatment are less likely to
relapse or be hospitalized.
• Educational programs for family members, significant others, and friends offer instruction about
schizophrenia symptoms and treatments, and strategies for assisting the person with the illness.
Increasing key supporters’ understanding of psychotic symptoms, treatment options, and the course
of recovery can lessen their distress, bolster coping and empowerment, and strengthen their capacity
to offer effective assistance. Family-based services may be provided on an individual basis or through
multi-family workshops and support groups.
• Coordinated specialty care (CSC) is a general term used to describe recovery-oriented treatment
programs for people with first episode psychosis, an early stage of schizophrenia. A team of health
professionals and specialists deliver CSC, which includes psychotherapy, medication management,
case management, employment and education support, and family education and support. The
person with early psychosis and the team work together to make treatment decisions, involving family
members as much as possible. Compared to typical care for early psychosis, CSC is more effective at
reducing symptoms, improving quality of life, and increasing involvement in work or school.
42. • A.D are a cluster of mental disorders characterized by significant and
uncontrollable feelings of anxiety and fear such that a person's social,
occupational, and personal function are significantly impaired.
• Anxiety may cause physical and cognitive symptoms, such as
restlessness, irritability, easy fatiguability, difficulty concentrating,
increased heart rate, chest pain, abdominal pain.
TYPES
OF
ANXIETY
DISORDER
Generalized anxiety disorder (GAD)
Specific phobias
Panic disorder
Agoraphobia
Social anxiety disorder
Post-traumatic stress disorder
Separation anxiety disorder
Obsessive–compulsive disorder
Selective mutism
43. Generalized anxiety disorder
• Common Disorder, long-lasting anxiety which is not focused on any one
object or situation. suffering from generalized anxiety disorder experience
non-specific persistent fear and worry, and become overly concerned with
everyday matters.
• Symptoms: restlessness, fatigue, concentration problems, irritability,
muscle tension, and sleep disturbance.
• Stresses can include family life, work, social life, or their own health. A
person may find that they have problems making daily decisions and
remembering commitments as a result of lack of concentration and/or
preoccupation with worry.
• Children, GAD may be associated with headaches, restlessness, abdominal
pain, and heart palpitations. Typically it begins around 8 to 9 years of age.
44. Specific phobias
• The single largest category of anxiety disorders is that of specific
phobias, which includes all cases in which fear and anxiety are
triggered by a specific stimulus or situation.
• Between 5% and 12% of the population worldwide suffer from
specific phobias.
• According to the National Institute of Mental Health, a phobia is an
intense fear of or aversion to specific objects or situations. Sufferers
typically anticipate terrifying consequences from encountering the
object of their fear, which can be anything from an animal to a
location to a bodily fluid to a particular situation.
• Common phobias are flying, blood, water, highway driving, and
tunnels. When people are exposed to their phobia, they may
experience trembling, shortness of breath, or rapid heartbeat.
Specific Phobias
45.
46. Panic disorder
• Person has brief attacks of intense terror and apprehension,
often marked by trembling, shaking, confusion, dizziness,
nausea, and/or difficulty breathing. These panic attacks,
defined by the APA as fear or discomfort that abruptly arises
and peaks in less than ten minutes, can last for several hours
• Attacks can be triggered by stress, irrational thoughts,
general fear or fear of the unknown, or even exercise.
However, sometimes the trigger is unclear and the attacks
can arise without warning.
• Panic attacks are very upsetting. People with panic disorder
often spend a lot of time worrying about the next panic
attack. They also try to avoid situations that might trigger an
attack.
47. • AGORAPHOBIA:- Agoraphobia is the specific anxiety about being in a place or
situation where escape is difficult or embarrassing or where help may be
unavailable. Agoraphobia is strongly linked with panic disorder and is often
precipitated by the fear of having a panic attack. In addition to the fears
themselves, the term agoraphobia is often used to refer to avoidance behaviors
that sufferers often develop.
• SOCIAL ANXIETY DISORDER:- an intense fear and avoidance of negative public
scrutiny, public embarrassment, humiliation, or social interaction. manifests
specific physical symptoms, including blushing, sweating, rapid heart rate, and
difficulty speaking. Children are also affected by social anxiety disorder, although
their associated symptoms are different than that of teenagers and adults. They
may experience difficulty processing or retrieving information, sleep deprivation,
disruptive behaviors in class, and irregular class participation. Social physique
anxiety (SPA) is a subtype of social anxiety, involving concern over the evaluation
of one's body by others. SPA is common among adolescents, especially females
• POST-TRAUMATIC STRE DISORDER:- stress can result from an extreme situation,
such as combat, natural disaster, rape, hostage situations, child abuse, bullying,
or even a serious accident. It can also result from long-term (chronic) exposure to
a severe stressor—for example, soldiers who endure individual battles but
cannot cope with continuous combat. Common symptoms include
hypervigilance, flashbacks, avoidant behaviors, anxiety, anger and depression. In
addition, individuals may experience sleep disturbances.
48. • SEPARATION ANXIETY DISORDER:- feeling of excessive and inappropriate
levels of anxiety over being separated from a person or place. Separation
anxiety is a normal part of development in babies or children, and it is only
when this feeling is excessive or inappropriate that it can be considered a
disorder.
• OBSESSIVE COMPULSIVE DISORDER:- condition where the person has
obsessions (distressing, persistent, and intrusive thoughts or images) and
compulsions (urges to repeatedly perform specific acts or rituals), that are
not caused by drugs or physical disorder, and which cause distress or social
dysfunction.
• SELECTIVE MUTISM:- Selective mutism (SM) is a disorder in which a
person who is normally capable of speech does not speak in specific
situations or to specific people. Selective mutism usually co-exists with
shyness or social anxiety.
49. What causes anxiety disorders?
• Chemical imbalance: Severe or long-lasting stress can change the
chemical balance that controls your mood. Experiencing a lot of stress
over a long period can lead to an anxiety disorder.
• Environmental factors: Experiencing a trauma might trigger an anxiety
disorder, especially in someone who has inherited a higher risk to
start.
• Heredity: Anxiety disorders tend to run in families. You may inherit
them from one or both parents, like eye color.
50. Is Anxiety Genetic?
• Decades of research has explored the hereditary connections in anxiety.
For example, research from 2002Trusted Source noted that certain
chromosomal characteristics are linked to phobias and panic disorder
• A 2015 study Trusted Source looked at mental illnesses and twins and
found that the RBFOX1 gene may make someone more likely to develop
generalized anxiety disorder. A 2016 review Trusted Source showed that
social anxiety disorder, panic disorder, and generalized anxiety disorder are
all linked to specific genes
• More recently, a 2017 review of studies Trusted Source concluded that
generalized anxiety disorder (GAD) can be inherited, with GAD and
associated conditions being linked to a number of different genes.