Neurodevelopmental

& Elimination
Disorders
PRESENTED BY: KEANN
BROWNE, FAITH BENSKIN,
BRIANA EDWARDS &
AMANDA GRIFFITH
Intellectual
Developmental
Disorder
 Intellectual Developmental Disorder

The terms Intellectual Intellectual Disability (ID): The term most

Developmental Disorder (IDD) commonly used in clinical and diagnostic contexts,
and Intellectual Disability (ID) are such as the DSM-5 . It replaced the term "mental
often used interchangeably. retardation" to align with modern, person-first
language.

Both refer to the same condition

characterized by impairments in
intellectual functioning and
adaptive behavior that originate
during the developmental period,
typically before the age of 18.
 Intellectual Developmental Disorder

A neurodevelopmental
disorder characterized by: • The child has challenges with thinking
and learning in several areas.

• These challenges can make it harder for

Deficits in intellectual children to take care of themselves,
functioning (reasoning, communicate, join in social activities,
problem-solving, planning, and be independent at home or in the
community. They might seem to be
abstract thinking, judgment). acting out, but it also may be that they
don’t understand what behavior is
Deficits in adaptive appropriate.
functioning that impair
personal independence and
social responsibility.
Prevalence

 Global Prevalence: Approximately

1% of the population.
 Mild IDD: Most common subtype,
accounting for 85% of cases.
 Severe/Profound IDD: Rare,
approximately 6% of cases.
 Slightly more common in males than
females (male-to-female ratio ~
1.5:1).
 Rates vary depending on access to
healthcare and early childhood
development resources.
 Prognosis
 Variable Prognosis: Depends on the
• Critical Factors Affecting
severity and availability of support
Prognosis:
services.
• Early diagnosis and
 Mild IDD: intervention.
 Many individuals achieve partial • Access to specialized
independence with appropriate support. education and healthcare.
 Can hold simple jobs and maintain social • Family and community
relationships. support.
 Moderate to Severe IDD:
 Lifelong need for significant support in daily
living and communication.
 Risk of associated conditions like epilepsy,
mood disorders, or sensory impairments.
 Etiology
Genetic Causes of IDD

• Chromosomal Abnormalities:
Overview of Causes • Down Syndrome (Trisomy 21): The
Intellectual Developmental Disorder (IDD) most common genetic cause of IDD.
arises from a combination of genetic and • Fragile X Syndrome: A leading
environmental factors that disrupt brain inherited cause.
development. These factors can be • Turner Syndrome and Klinefelter
grouped into: Syndrome (less common).
• Single-Gene Disorders:
1.Genetic Causes
• Rett Syndrome: Mutation in the MECP2
2.Prenatal Causes
gene, primarily affecting females.
3.Perinatal Causes
• Phenylketonuria (PKU): A metabolic
4.Postnatal Causes
disorder leading to IDD if untreated.
• Polygenic/Multifactorial
Inheritance:
• Interaction of multiple genes and
environmental factors.
 Etiology
Prenatal Causes of IDD

•Perinatal Causes of IDD

Maternal Infections:
• Birth Complications:
• TORCH infections (Toxoplasmosis, Rubella,
Cytomegalovirus, Herpes simplex). • Perinatal asphyxia (hypoxic-
• Zika Virus: Associated with microcephaly and severe ischemic encephalopathy).
IDD.
• Premature birth and low birth
Maternal Substance Exposure: weight.
• Fetal Alcohol Spectrum Disorder (FASD): Caused by • Neonatal Infections:
alcohol consumption during pregnancy.
• Teratogens: Exposure to harmful drugs (e.g., • Meningitis, sepsis, or encephalitis
anticonvulsants, isotretinoin). during the neonatal period.
Maternal Health Issues:
• Trauma:
• Malnutrition (e.g., iodine deficiency), poorly controlled
• Birth injuries, including
diabetes. intracranial hemorrhage.
• Hypoxia or placental insufficiency.
 Etiology
 Postnatal Causes of IDD
 Acquired Brain Injury:
 Traumatic brain injury (TBI). •Key Takeaways
 Non-accidental injuries (e.g., shaken baby
syndrome).
• IDD has a multifactorial etiology,
 Infections: involving interactions between genetic
 predispositions and environmental
Meningitis, encephalitis, or other severe childhood
infections.
factors.
 Nutritional Deficiencies:
• Early identification and management of
 Severe malnutrition (e.g., protein-energy risk factors can help mitigate severity.
malnutrition).
 Micronutrient deficiencies (iron, iodine).
 Environmental Factors:
 Severe neglect or psychosocial deprivation.
 Symptoms

 IDD is characterized by Intellectual Deficits

impairments in: • Cognitive Impairments:
• Limitations in reasoning, problem-
solving, and abstract thinking.
 Intellectual • Difficulty with academic skills such as
Functioning reading, writing, and math.
• Learning and Memory:
 Adaptive Behavior • Slower rate of learning compared to
 Associated peers.
Comorbidities • Impaired ability to generalize
knowledge to new situations.
• Executive Functioning:
 These deficits affect the • Challenges with planning, decision-
individual’s ability to making, and impulse control.
function independently in
everyday life.
 Symptoms

 Adaptive Behavior Challenges Comorbidities Associated with IDD

• Neurodevelopmental Disorders:
 Conceptual Skills: • Autism Spectrum Disorder (ASD): Frequently co-
 Language and literacy difficulties. occurs with IDD, characterized by social
communication challenges and repetitive
 Poor understanding of time, money, and abstract behaviors.
concepts. • Attention-Deficit/Hyperactivity Disorder (ADHD):
 Social Skills: Marked by inattention, hyperactivity, and
 impulsivity.
Difficulty interpreting social cues and maintaining
• Mental Health Conditions:
relationships.
• Anxiety Disorders: Increased prevalence in
 Challenges with communication and expressing individuals with IDD.
emotions appropriately. • Depression: May manifest atypically, such as
 Practical Skills: through irritability or regression.
• Medical Conditions:
 Struggles with daily living tasks such as dressing, • Epilepsy: Common in severe IDD.
bathing, cooking, and managing finances. • Sensory impairments: Hearing or vision
 Limited ability to function independently in problems.
community settings. • Motor disorders: Coordination and movement
 Symptoms

 Functional Impact
 Key Takeaways
Lifelong Support Needs:
 Severity of IDD determines the • IDD affects multiple domains of
level of assistance required. functioning, requiring a holistic
 From intermittent support (mild approach to diagnosis and care.
IDD) to pervasive support
(profound IDD). • Early intervention and tailored
 Educational and Vocational support strategies are essential
Challenges: to improving outcomes.
 Difficulty integrating into
standard educational settings.
 Limited access to competitive
employment opportunities.
 DSM-5 Criteria

 The following three criteria must be met: B. Deficits in adaptive functioning that
A. Deficits in intellectual functions, such as result in failure to meet developmental
reasoning, problem solving, planning, abstract and sociocultural standards for personal
thinking, judgment, academic learning, and independence and social responsibility.
learning from experience, confirmed by both
clinical assessment and individualized, Without ongoing support, the adaptive
standardized intelligence testing. deficits limit functioning in one or more
activities of daily life, such as
communication, social participation, and
C. Onset of intellectual and adaptive deficits independent living, across multiple
during the developmental period. environments, such as home, school,
work, and community.
DSM-5 criteria

 Severity Levels:
 The DSM-5 defines severity based on adaptive functioning, not IQ alone, and categorizes it into
four levels:
 Mild: Difficulty with academic skills and complex tasks; support may be needed in some daily
activities.
 Moderate: Marked developmental delays; ongoing support needed for self-care and decision-
making.
 Severe: Limited ability to communicate effectively; requires supervision for all activities.
 Profound: Significant motor, sensory, and communication impairments; dependent on caregivers for
all aspects of life
 Additional Notes:
 Intellectual Disability can occur with other conditions, such as autism spectrum disorder or genetic
syndromes (e.g., Down syndrome).
 A comprehensive assessment includes medical, educational, psychological, and cultural factors.
 Patho Physiology
Structural Brain Abnormalities
Synaptic and Neural Circuit Dysfunction • Cortical Abnormalities:
 • Individuals with IDD often show structural changes in
Impaired Synaptic Connectivity:
the cerebral cortex, particularly in areas associated
 IDD is often characterized by disruptions in the with cognition, motor function, and language. These
formation and functioning of synapses, the abnormalities may include reduced cortical thickness
structures that allow neurons to communicate. or abnormalities in the size and function of certain
These disruptions can affect both the creation brain regions, such as the frontal lobes (important for
and elimination (pruning) of synapses during executive function) and hippocampus (important for
critical periods of brain development. memory).
• In some syndromes like Down syndrome, there is also
 Synaptic dysfunction leads to poor neural reduced overall brain volume, which further
connectivity, which can impair cognitive exacerbates cognitive impairments.
processes such as learning, memory, and • Cerebellar Abnormalities:
problem-solving. • The cerebellum, which is crucial for motor
coordination and learning, may also show abnormal
 Altered Brain Plasticity: development in individuals with IDD. This can lead to
 Brain plasticity refers to the brain's ability to motor deficits, which are often observed alongside
reorganize and adapt. In IDD, neuroplasticity is cognitive challenges.
often impaired, leading to deficits in adaptive
behaviors and cognitive skills.
 Pathophysiology
4. Neurotransmitter Imbalance
 Dysregulation of Neurotransmitters: Mitochondrial Dysfunction
• Impaired Energy Production:
 Neurotransmitter systems, including those involving
dopamine, serotonin, and glutamate, may function • Mitochondria are responsible for energy
abnormally in individuals with IDD. These production in cells. In some individuals with
neurotransmitters are critical for mood regulation, IDD, mitochondrial dysfunction leads to
cognition, and behavior. deficits in energy metabolism, which affects
 For example, dopamine dysfunction has been implicated brain cells' ability to function properly.
in disorders like ADHD (commonly co-occurring with
IDD) and may affect attention and learning abilities. • This may contribute to delayed brain

development and cognitive impairments,
Serotonin imbalances can contribute to mood and
particularly in conditions associated with
behavioral issues, which are common in many forms of
mitochondrial disorders.
IDD.
 Abnormalities in glutamate signaling have been linked to
cognitive deficits and may affect neural plasticity.
 Pathophysiology
 Epigenetic and Environmental Disruption of Developmental Pathways
Factors • Critical Periods of Brain Development:
• During early development, the brain undergoes
 Gene-Environment critical periods when specific neural circuits are
Interactions:' formed and refined. Disruptions in these
Environmental factors such as prenatal processes, due to genetic, environmental, or
exposure to toxins (e.g., alcohol, metabolic factors, can lead to permanent
impairments in cognitive and adaptive
drugs) or infections can influence the
functioning.
expression of genes that govern brain
development, exacerbating genetic • For example, disruptions in the development of
predispositions. the default mode network (involved in higher-level
Epigenetic changes, where gene cognitive functions like social cognition and
expression is altered without changes executive function) can contribute to difficulties in
to the underlying DNA sequence, can areas such as problem-solving, language, and
also play a role in the development of social interaction.
IDD.
 Pathophysiology

Chromosomal Abnormalities: Many cases of IDD

are associated with genetic mutations or
chromosomal abnormalities. Examples include: IDD involves a These disruptions
complex interplay can affect synaptic
of genetic, connectivity,
• Down syndrome (Trisomy 21): An extra copy structural, and neurotransmitter
of chromosome 21 leads to intellectual and neurochemical systems, brain
factors that impair structure, and
developmental delays. The presence of the extra normal brain plasticity, leading
chromosome disrupts brain development, development. to cognitive and
leading to structural and functional changes. behavioral deficits.

• Fragile X syndrome: A mutation in the FMR1

gene on the X chromosome causes abnormal
protein production, which is critical for synaptic
Environmental and
function and neural plasticity. This leads to epigenetic
intellectual disability and other developmental influences further
symptoms. complicate the
pathophysiology,
highlighting the
• Other Syndromes: Conditions like Rett need for a multi-
syndrome, Williams syndrome, and Prader-Willi faceted approach
syndrome are also linked to specific genetic to understanding
and managing
mutations or deletions that affect these disorders.
 Differential Diagnosis
 1. Learning Disorders:
 Specific learning disorders (e.g., dyslexia, dyscalculia) impact academic skills but do not include global intellectual
deficits.
 2. Autism Spectrum Disorder (ASD):
 Overlaps may occur; however, ASD is primarily characterized by deficits in social communication and
restricted/repetitive behaviors.
 3. Genetic Syndromes:
 Down syndrome, Fragile X syndrome, Rett syndrome, and Prader-Willi syndrome often involve IDD.
 4. Psychiatric Conditions:
 Severe depression or psychotic disorders may mimic cognitive deficits.
 5. Medical Conditions:
 Hypothyroidism, seizure disorders, or metabolic disorders (e.g., phenylketonuria) can impair intellectual functioning.
 6. Sensory Impairments:
 Vision or hearing loss may interfere with developmental milestones but are not associated with intellectual deficits.
 7. Environmental and Cultural Factors:
 Consider poverty, lack of educational access, or cultural norms that might affect assessments of adaptive functioning.
 Treatment Approach

Overview of Treatment Goals

Behavioral and Cognitive Interventions
• Applied Behavior Analysis (ABA):
Primary Objectives:
• Evidence-based therapy focusing on skill
 Enhance cognitive, behavioral, and
adaptive functioning.
acquisition and behavior modification.

• Reinforces positive behaviors and minimizes
Promote independence and quality
of life. problematic ones.
 Support families and caregivers.
• Cognitive Behavioral Therapy (CBT):
• Structured, goal-oriented psychotherapy that
Multi-disciplinary Approach:
focuses on identifying and changing negative
• Key Team Members:
thought patterns and behaviors. It is
• Physicians (pediatricians, commonly used to treat emotional and
psychiatrists, neurologists).
behavioral issues, such as anxiety,
• Therapists (speech, occupational,
physical). depression, and aggression.
• Social Skills Training:
• Educators and social workers.
• Enhances communication and interaction
• Integrated Care:
abilities through structured sessions.
• Regular communication between
professionals and families to
ensure coordinated support.
 Applied Behavior Analysis

Core Principles: Advantages:

 Behavioral Reinforcement: Positive behaviors are • Highly structured and
encouraged through rewards, while negative or individualized.
undesired behaviors are reduced by altering
consequences. • Evidence-based, with
 Discrete Trial Training (DTT): Skills are broken down
proven effectiveness in
into small, manageable steps and taught individually. improving adaptive skills
 Functional Behavior Analysis (FBA): Identifies the and reducing challenging
causes and triggers of certain behaviors to better behaviors.
manage or modify them. Challenges:
 Applications in IDD: • Requires time and
 Teaching communication skills, such as using words or consistency from
gestures to express needs. caregivers and therapists.
 Reducing disruptive behaviors, such as aggression or • Can be resource-intensive.
self-injury.
 Enhancing daily living skills, like dressing, eating, or
hygiene.
 Cognitive Behavioral Therapy

Core Principles: • Advantages:

 Thought-Behavior Connection: Emphasizes the link • Adaptable for individuals with
between thoughts, emotions, and actions. mild-to-moderate intellectual
 disabilities.
Cognitive Restructuring: Helps individuals recognize
and challenge irrational or harmful thought patterns. • Focuses on developing lifelong
coping skills.
 Behavioral Techniques: Includes problem-solving,
coping strategies, and relaxation methods to address Challenges:
emotional dysregulation. • Requires tailoring for individuals
Applications in IDD: with IDD to ensure
understanding (e.g., using
 Treating comorbid conditions like anxiety, depression, visual aids or simplified
or obsessive-compulsive behaviors. language).
 Managing anger or frustration by teaching alternative • May be less effective for
ways to handle stress. individuals with severe cognitive
impairments.
 Enhancing social skills and self-confidence through role-
playing and problem-solving exercises.
 Treatment Approach

Family Support and Training

Educational Interventions Parent Training Programs:
Individualized Education Plans (IEPs): -Equip parents with skills to manage behaviors and
foster development.
-Customized goals tailored to the child’s -Focus on positive reinforcement and structured
cognitive level and learning needs. routines.
-Includes strategies for academic, Counseling and Support Groups:
social, and daily living skills. -Helps families cope with emotional and practical
Special Education Services: challenges.
-Provides a network for shared experiences and
-Support from educators trained in strategies.
working with children with IDD.
Respite Care:
-Incorporates assistive technology (e.g., -Temporary care services to reduce caregiver burnout.
text-to-speech devices).
Early Intervention Programs:
-Speech, occupational, and physical
therapy during critical developmental
periods.
 Treatment Approach
Medical Management of Comorbid condition
Vocational Training: Pharmacological Interventions:
-Prepares older individuals with IDD for employment
ADHD symptoms: Stimulants (e.g.,
and independent living.
methylphenidate), non-stimulants.
-Focuses on skill-building and workplace readiness.
Aggression or self-injury: Atypical
Community Integration:
antipsychotics (e.g., risperidone, aripiprazole).
-Encourages participation in social, recreational,
and cultural activities. Anxiety or mood disorders: Selective serotonin
reuptake inhibitors (SSRIs).
-Reduces social isolation and promotes inclusion.
Assistive Technologies: Sleep disturbances: Melatonin or other sleep
aids.
-Tools like augmentative communication devices
and apps to aid learning and communication. -Treating epilepsy, sensory impairments, or
metabolic disorders.
-Regular monitoring of medications to avoid side
effects.
Autism
Spectrum
Disorder
 Autism Spectrum Disorder (ASD) is
a neurodevelopmental disorder
characterized by:
- Deficits in social communication
and interaction across multiple
contexts.
Definition -Restricted, repetitive patterns of
behavior, interests, or activities.

It is a lifelong condition with

varying levels of severity and
support needs.
 Global prevalence: 1–2%
of the population.

U.S. prevalence (CDC,

2023): 1 in 36 children.
Epidemiology
Gender ratio: Males are 4
times more likely to be
diagnosed than females.
  ASD is multifactorial, involving a
combination of genetic,
environmental, and neurobiological
factors.
 Genetic Factors:
 High heritability: 50–90%.
 Genetic mutations associated with
ASD:SHANK3 (synaptic function),
Etiology MECP2 (Rett syndrome), NRXN1
(neural signaling).
 Copy number variations (CNVs):
Deletions or duplications in
chromosomes.
 Syndromic causes: Fragile X
Syndrome, Rett Syndrome, and
Tuberous Sclerosis.
  Environmental Factors:
 Prenatal: Advanced parental age,
maternal infections (rubella, CMV),
teratogen exposure (e.g., valproic
Etiology acid, thalidomide).
 Perinatal: Hypoxia, low birth weight.
 Postnatal: Early exposure to
environmental toxins (e.g., pesticides,
heavy metals).
  Neurobiological Factors:
 Brain overgrowth in early childhood
(frontal and temporal lobes).
 Excitatory-inhibitory imbalance:
Etiology Altered GABA (inhibitory) and
glutamate (excitatory)
neurotransmission.
 Neuroinflammation: Elevated
cytokines and microglial activation.
 All three of the following must be present:

Deficits in Social-Emotional Reciprocity

• Abnormal social approach (e.g., one-sided conversations).
DSM-V Criteria A • Reduced sharing of emotions or interests.
• Failure to initiate or respond to social interactions.

Deficits in Social Deficits in Nonverbal Communication

Communication and
• Poorly integrated verbal and nonverbal communication.
Social Interaction • Abnormal eye contact, gestures, facial expressions, or body
language.
• Lack of understanding or use of nonverbal cues.
Deficits in Developing, Maintaining, and
Understanding Relationships
• Difficulty adjusting behavior to suit social contexts.
• Struggles with imaginative play or making friends.
• Absence of interest in peers.
 At least two of the following must be present:
Stereotyped or Repetitive Movements, Speech, or Use
of Objects
• Examples: hand-flapping, echolalia (repeating words), lining up
DSM- V Criteria toys, or repetitive phrases.
Insistence on Sameness and Rigid Routines
B • Extreme distress at small changes.
• Difficulty with transitions or need for rituals (e.g., eating the
same food every day).
Restricted,
Highly Restricted, Fixated Interests
Repetitive Patterns
• Intense focus on unusual objects, topics, or interests (e.g.,
of Behavior, obsession with train schedules).
Interests, or • Abnormal in intensity or focus.
Activities Hyper- or Hypo-reactivity to Sensory Input
• Adverse reactions to sounds, textures, or lights (e.g., covering
ears).
• Indifference to pain/temperature.
• Unusual fascination with sensory aspects (e.g., spinning
objects)
 DSM V Criteria C, D & E

C. Symptoms Must Be Present in Early Development

Symptoms appear in early childhood but may not be fully recognized until
later due to masking or environmental demands.
D. Symptoms Cause Clinically Significant Impairment

Impairment must be evident in social, occupational, or other important areas

of functioning.
E. Symptoms Are Not Better Explained by Other Disorders

Rule out intellectual disability, global developmental delay, or other

conditions (e.g., ADHD, language disorders, schizophrenia).
 The DSM-V-TR
also classifies
ASD severity
based on support
needs:
• Social communication deficits and

Severity
inflexible behaviors cause noticeable
Level 1 impairments.
("Requiring • Examples: Difficulty initiating

Levels DSM V Support") conversations; struggles with changes to

routine.

Grading Level 2 • Marked deficits in verbal and nonverbal

("Requiring communication.
Substantial • Restricted behaviors and rigidity interfere
significantly with daily functioning.
Support")

Level 3
• Severe deficits in social communication
("Requiring and extreme difficulty coping with change.
Very • Restricted, repetitive behaviors markedly
Substantial impair functioning.
Support")
 Modified Checklist for Autism in Toddlers,
Revised (M-CHAT), a 20-question test designed for
toddlers between 16 and 30 months old.

The Ages and Stages Questionnaire (ASQ), a

general developmental screening tool with
sections targeting specific ages used to identify
Screening any developmental challenges a child may have.

Tools for Screening Tool for Autism in Toddlers and

Young Children (STAT), an interactive screening
ASD tool, comprising 12 activities that assess play,
communication, and imitation.

Parents’ Evaluation of Developmental Status

(PEDS) is a general developmental parent-
interview form that identifies areas of concern by
asking parents questions.
 Intellectual Disability (ID): Overlapping delays
in language and cognition.

Attention-Deficit Hyperactivity Disorder

(ADHD): Inattention and hyperactivity can
mimic social deficits.
Differential Language Disorders: Isolated communication
issues without social or repetitive behavior
Diagnosis challenges.
Social (Pragmatic) Communication Disorder:
Deficits in social communication but without
repetitive behaviors.
Schizophrenia (childhood-onset): May present
with social withdrawal and atypical behaviors.
  Non- Pharmacological:
 Behavioural Therapies:
 Applied Behaviour Analysis (ABA):
Evidence-based therapy to teach
communication and adaptive skills.
 Early Start Denver Model (ESDM):
Play-based early intervention therapy.
Management  Speech and Language Therapy:
Improves verbal and nonverbal
communication.
 Occupational Therapy: Targets sensory
integration and motor skills.
 Social Skills Training: Enhances social
interaction abilities.
 Mechanism of
Symptom/Target Medication Notes
Action
Atypical Reduces
antipsychotic; irritability,
Irritability and - Risperidone dopamine (D2) and tantrums, and
Aggression (FDA approved) serotonin (5-HT2A)aggression.
Pharmacological receptor
antagonist.
Approved for
children ≥5 years.

Interventions - Aripiprazole
Effective for
Partial D2 receptor reducing
agonist and 5- irritability;
(FDA approved)
HT1A agonist. approved for
•While there is no medication to children ≥6 years.
treat the core symptoms of ASD, Limited evidence;
pharmacological interventions Repetitive - SSRIs (e.g., Selective serotonin
may reduce
address associated symptoms like repetitive
Behaviors Fluoxetine) reuptake inhibitors.
behaviors and
irritability, hyperactivity, anxiety, anxiety.
and repetitive behaviors. CNS stimulant;
Effective in
reducing
- increases
Hyperactivity/ hyperactivity;
Methylphenidat dopamine and
ADHD symptoms commonly used
e norepinephrine
for comorbid
levels.
ADHD.
Selective
Non-stimulant
norepinephrine
- Atomoxetine option; useful in
reuptake inhibitor
ADHD symptoms.
(NRI).
Useful for anxiety
Anxiety/ - SSRIs (e.g., Increases serotonin
and mood
Depression Sertraline) levels.
stabilization.
Attention Deficit
Hyperactivity
Disorder(ADHD)
FAITH BENSKIN
  ADHD is a
neurodevelopmental disorder
Definition that manifests in childhood
and may persist into
adulthood. It is characterized
by inattention and/or
impulsivity and hyperactivity
resulting in functional
impairment in social,
occupational, and/or academic
activities.
Definition  Individuals with ADHD frequently have comorbidities
such as anxiety disorder, major depressive disorder,
Cont’d and specific learning disorder
 Epidemiology

 Prevalence 5% of children; 2.5% of adults

 Males: Females with 2:1 ratio
 Females present more often with inattentive symptoms
 Age of Onset: usually before 12 years
 Etiology

Neurobiological Factors
Genetic Factors • Structural Brain Changes:
strong genetic component, with heritability - Reduced volume in areas like the prefrontal
estimated at 75-80%. cortex, basal ganglia, and cerebellum, which
Specific genes associated with dopamine are involved in attention, executive function,
regulation (DRD4 and DAT1) are implicated, and impulse control.
affecting brain circuits related to attention and
impulse control. •Functional Brain Changes:
• Family studies: Higher prevalence of ADHD in -Hypoactivity in the prefrontal cortex, leading
first-degree relatives to difficulty with planning, decision-making, and
inhibiting impulses.

-Dysregulation in dopamine and norepinephrine

neurotransmitter systems, which are critical for
focus and reward processing
Etiology

Psychosocial Factors (not

Environmental Factors primary causes but can
•Prenatal Factors: influence severity)
-Exposure to tobacco, alcohol, or drugs during
pregnancy.
-Premature birth, low birth weight, or maternal
stress. •Family dysfunction or inconsistent
•Early Childhood Factors: parenting styles may worsen symptoms
-Lead exposure or significant psychosocial
or coping.
adversity.
•Stressful life events or a chaotic
-Severe early deprivation or neglect may environment may amplify difficulties.
exacerbate symptoms.
DSM-5 Criteria

 There are 2 symptom domains

 Inattentiveness and hyperactivity/ impulsivity
 DSM-5 Criteria- Inattentiveness

≥ 6 of the following symptoms have persisted for at least 6 months to a degree that is
inconsistent with developmental level and that negatively impacts directly on social and
academic/occupational activities:
 The symptoms are not solely a manifestation of oppositional behavior, defiance,
hostility, or failure to understand tasks or instructions. For older adolescents and
adults (age 17 and older), at least five symptoms are required.
DSM-5 Criteria- Criteria A

 Poor attention to detail

 Struggles to maintain attention
 Avoids activities that require uninterrupted focus or concentration
 Easily distracted
 Does not listen when directly spoken to
 Inability to complete tasks or instructions
 Forgetful
 Loses items used for everyday tasks
 Struggles with organization of tasks and activities
DSM-5 Criteria- Hyperactivity and
impulsivity

≥ 6 of the following symptoms have persisted for at least 6 months to a

degree that is inconsistent with developmental level and that negatively impacts
directly on social and academic/occupational activities:
Note: The symptoms are not solely a manifestation of oppositional behavior,
defiance, hostility, or a failure to understand tasks or instructions. For older
adolescents and adults (age 17 and older), at least five symptoms are required.
 Symptoms of Hyperactivity and Impulsivity

Struggles to remain still

Fidgets, taps, or squirms when seated
Standing in situations in which they should be seated
Inappropriate running or climbing (or restlessness in adolescents and adults)
Unable to remain quiet during play or leisure activities
Excessive talking
Struggles with waiting for their turn
Intrudes upon others
Answers questions prematurely or for others
 Behavior is not consistent with developmental level
Criteria B,C,D,E

B. Several inattentive or hyperactive-impulsive symptoms were present prior to

age 12 years.
C. Several inattentive or hyperactive-impulsive symptoms are present in two or
more settings (e.g., at home, school, or work; with friends or relatives; in other
activities).
D. There is clear evidence that the symptoms interfere with, or reduce the
quality of, social, academic, or occupational functioning.
 E. The symptoms do not occur exclusively during the course of
schizophrenia or another psychotic disorder and are not better explained by
another mental disorder (e.g. mood disorder, anxiety disorder, dissociative
disorder, personality disorder, substance intoxication or withdrawal).
Specifications

31 4.01 (F90.2) Combined presentation: If both Criterion A 1 (inattention)

and Criterion A2 (hyperactivity-impulsivity) are met for the past 6 months.
314.00 (F90.0) Predominantly inattentive presentation: If Criterion A 1
(inattention) is met but Criterion A2 (hyperactivityimpulsivity)
is not met for the past 6 months.
314.01 (F90.1 ) Predominantly hyperactive/impulsive presentation: If
Criterion A2 (hyperactivity-impulsivity) is met and Criterion
 A 1 (inattention) is not met for the past 6 months.
Specifications

Specify if:
In partial remission: When fu ll criteria were previously met, fewer than the full criteria have
been met for the past 6 months, and the symptoms sti ll result in impairment in social,
academic, or occupational functioning.
Specify current severity:
Mild: Few, if any, symptoms in excess of those required to make the diagnosis are present,
and symptoms result in no more than minor impairments in social or occupational
functioning.
Moderate: Symptoms or functional impairment between “mi ld” and “severe” are present.
 Severe: Many symptoms in excess of those required to make the diagnosis, or several
symptoms that are particularly severe, are present, or the symptoms result in marked
impairment in social or occupational function ing.
Pathophysiology
Differential Diagnosis
Differential Diagnosis
Differential Diagnosis
Treatment

Approach
Initiate first-line management based on the individual’s age.
Children 4–5 years of age: behavioral interventions alone
Children ≥ 6 years of age and adults: pharmacotherapy with
adjunctive behavioral interventions
 Treatment

Pharmacotherapy
Stimulant therapy is usually first-line treatment for children ≥ 6 years of age and adults.
CNS Stimulant therapy
Options: methylphenidate
Treatment

Methylphenidate-Based Medications
Generic: Methylphenidate
 Brand Names: Ritalin, Concerta, Metadate, Daytrana (patch), Focalin
(dexmethylphenidate).
Treatment

Mechanism of Action:
Blocking dopamine and norepinephrine reuptake transporters in
the presynaptic neuron
This increases the levels of dopamine and norepinephrine in the
synaptic cleft.
The enhanced neurotransmitter activity improves attention,
focus, and impulse control.
It primarily acts on the prefrontal cortex, the area responsible for
executive functions like decision-making, attention, and self-regulation.
Treatment

 Common Side Effects:Decreased appetite, weight loss, insomnia,

headache, irritability.
 Indications Often used first due to a lower risk of side effects
compared to amphetamines.
 Narcolepsy or binge eating disorder
 Treatment-resistant depression (as adjunct therapy).
 Cognitive symptoms in neurological conditions like traumatic brain
injury or dementia limited evidence of this.
 Preferred for younger children.
Contraindications

Cardiac Conditions- Severe hypertension, arrhythmias, or structural heart

defects.History of cardiomyopathy or recent myocardial infarction.
 Mental Health Conditions- Severe anxiety, tension, or agitation (may
worsen symptoms).History of psychosis or untreated bipolar disorder
(can exacerbate manic episodes).
Contraindications

Substance Abuse History- High risk of misuse due to stimulant properties.

Glaucoma: Increases intraocular pressure.
Hyperthyroidism or Thyrotoxicosis: May aggravate symptoms.
 Allergy to Methylphenidate: Hypersensitivity reactions.
Adverse effects

Sympathomimetic effects
Anxiety, agitation, restlessness, bruxism, tics
Difficulty falling asleep (insomnia)
Reduced appetite,; weight loss
Increased arterial blood pressure, tachycardia
 Treatment

 Methylphetamine has FDA approval for the treatment of ADHD but is rarely prescribed
because of its high potential for misuse.

 Stimulants are Schedule II controlled drugs in USA

 substances regulated under the Controlled Substances Act (CSA) due to their:
 High potential for abuse, which may lead to severe psychological or physical
dependence.
 Legitimate medical uses, but with strict regulations to prevent misuse.
Treatment

 While Barbados has no direct equivalent to the U.S. Schedule II

classification, the law outlines similar restrictions and monitoring for
high-risk substances, ensuring they are used appropriately under
medical supervision
Amphetamine-Based Medications

Generic: Amphetamine salts, Dextroamphetamine

 Brand Names: Adderall, Adderall XR, Vyvanse (lisdexamfetamine),
Dexedrine.
Mechanism of Action

Increase the levels of dopamine and norepinephrine in the brain by:

Stimulating the release of dopamine and norepinephrine from presynaptic
neurons.
Inhibiting reuptake of these neurotransmitters, keeping them active in the
synaptic cleft.
Mildly inhibiting monoamine oxidase (MAO), reducing the breakdown of
these neurotransmitters.
 These actions primarily affect the prefrontal cortex, which governs
attention, impulse control, and working memory.
Indications

 Attention- Deficit/ Hyperactivity Disorder(ADHD)

 Narcolepsy: To manage excessive daytime
sleepiness (in some cases).
 Binge Eating Disorder (FDA-approved for
Vyvanse).
 Contraindications

 In addition to Contraindications of Methylphenidate

 Cardiovascular Conditions:advanced arteriosclerosis, or structural heart defects.
 Hypersensitivity: Allergy to amphetamine salts or components.
Side Effects

Common Side Effects:

●Insomnia
●Loss of appetite and weight loss
●Dry mouth
●Nervousness or anxiety
●Increased heart rate and blood pressure
Side Effects

Less Common/Serious Side Effects:

Growth suppression in children (monitor growth).
Mood swings or irritability.
Worsening of tics or Tourette syndrome in predisposed individuals.
 Potential for substance abuse or dependence.
Side Effects

Rare but Severe Effects:

Cardiac events (e.g., sudden death in individuals with undiagnosed heart
conditions).
Psychosis or hallucinations.
 Seizures (in those with a lowered seizure threshold
 Treatment

Nonstimulant therapy
Selective norepinephrine reuptake inhibitors
 Options: atomoxetine

Alpha-2 adrenergic agonists

 Options: guanfacine ; or clonidine
Atomoxetine (Strattera)

 Selective norepinephrine reuptake inhibitor (NRI)

Mechanism of action
Blocks the norepinephrine transporter (NET) in the presynaptic neurons.
 This inhibits the reuptake of norepinephrine, increasing its levels in the
synaptic cleft, particularly in the prefrontal cortex.
Mechanism of Action

 Effect on ADHD: The elevated norepinephrine enhances attention,

focus, and impulse control by improving signaling in areas of the brain
responsible for executive function.

Dopamine in the Prefrontal Cortex:

 Atomoxetine indirectly increases dopamine levels in the prefrontal
cortex due to norepinephrine-dopamine interactions, even though it
does not affect dopamine reuptake directly.
Indications

 FDA-approved for ADHD in children (≥6 years), adolescents, and adults.

Contraindications

Severe cardiac conditions (e.g., cardiomyopathy, arrhythmias).

Glaucoma.
 Use with monoamine oxidase inhibitors (MAOIs) or within 14 days of
discontinuing an MAOI.
Side Effects

Common: Fatigue, decreased appetite, nausea, dry mouth, dizziness.

 Serious: Increased blood pressure/heart rate, suicidal ideation (black
box warning), liver damage (rare)
Extended-Release Guanfacine
(Intuniv)

 MOA
 Guanfacine selectively activates alpha-2A adrenergic receptors located
on postsynaptic neurons in the prefrontal cortex.
 This enhances norepinephrine signaling, which strengthens the
connectivity and firing of prefrontal cortical neurons.
MOA

By improving prefrontal cortical activity, guanfacine helps regulate

attention, impulse control, and working memory, which are impaired in
ADHD.
Reduction of Sympathetic Nervous System Activity:
 Guanfacine reduces overall sympathetic nervous system output,
contributing to its calming effects and ability to reduce hyperactivity
and aggression.
MOA

 Unlike stimulants, guanfacine does not directly influence dopamine or

norepinephrine reuptake but works by modulating the existing
norepinephrine system to enhance prefrontal cortex efficiency.
Indications and Contraindications

Indications:
 ADHD in children and adolescents (as monotherapy or adjunct to
stimulants).

Contraindications:
Hypersensitivity to guanfacine.
 Use with caution in severe hypotension or bradycardia
Extended-Release Clonidine
(Kapvay)
MOA:
Similar to guanfacine, alpha-2 adrenergic receptor agonist, but more
sedating.
 Reduces overactivity in the brain and enhances self-regulation.

Indications:
 ADHD in children and adolescents (monotherapy or adjunct to
stimulants).
Extended-Release Clonidine
(Kapvay)

Contraindications:
Severe hypotension or bradycardia.
 Use with caution in heart block or depression.


Side Effects:
Common: Drowsiness, dry mouth, dizziness, constipation.
 Serious: Low blood pressure, fainting, withdrawal hypertension if
stopped suddenly.
Course and Prognosis

Stable through adolescence

 Many continue to have symptoms as adults (inattentive > hyperactive)
 High incidence of comorbid oppositional defiant disorder, conduct
disorder(CD), and specific learning disord
Specific Learning
Disorder
FAITH BENSKIN
Definition

A neurodevelopmental disorder characterized by persistent difficulties in

learning and using academic skills such as reading, writing, or
mathematics.
 The difficulties are substantially below what is expected for the
individual’s age and cause significant interference with academic or
occupational performance.
 Epidemiology

Prevalence:
Global prevalence: ~5-15% among school-
aged children. Gender: Slightly more common in
 Reading difficulties (dyslexia) are the males than females (2:1).
most common type (~80% of cases).  Onset: Typically identified in early
school years.
 Etiology

Genetic Factors:
 Heritability estimated at ~50%; runs
in families eg dyslexia genes like
DYX1C1

Neurobiological Factors:
 Atypical brain structure or
function in areas responsible for
language, reading, or math (e.g.,
underactivation of the left
temporoparietal region in dyslexia).
Etiology

 In dyslexia, parts of the brain responsible for reading and language, particularly
the left temporoparietal region, don’t work as efficiently. This area helps
break words into sounds and connect them to letters (phonological processing).
 Other areas involved:
 Occipitotemporal region: Recognizes words quickly but is slower in dyslexia.
 Prefrontal cortex: Supports attention and memory, often under strain in
dyslexia.
 These inefficiencies make reading slower and harder, but interventions can help
the brain create new pathways to improve skills.
Etiology

Environmental Factors:
Prematurity, low birth weight, prenatal exposure to substances (e.g.,
alcohol).
 Poor educational opportunities or low socioeconomic status may
exacerbate difficulties but do not cause SLD.
DSM-5 TR diagnostic Criteria

DSM-5-TR Diagnostic Criteria

A. Persistent difficulties in one or more academic skills for 6+ months,
despite targeted intervention:
Reading (e.g., word recognition, fluency, comprehension).
Written expression (e.g., spelling, grammar, organizing written work).
 Mathematics (e.g., number sense, memorization of arithmetic facts).
DSM-5 TR diagnostic Criteria

B. Skills are below expected for age, causing significant academic or

occupational impairment.
C. Onset: During school years, though may fully manifest later.
 D. Rule out: Intellectual disability, sensory deficits, neurological
disorders, lack of opportunity, or other mental/neurological conditions.
Differential Diagnoses

Intellectual Disability:
 Generalized deficits in intellectual functioning, not specific academic skills.

ADHD:
 Focus is on attention and hyperactivity, but SLD and ADHD commonly co-occur.

Sensory Impairments:
 Hearing or vision issues must be ruled out as contributors to academic struggles.


Neurological Disorders:
 E.g., epilepsy, traumatic brain injury.
Treatment

Educational Interventions:
 Individualized Education Programs (IEPs) or special education plans
tailored to the child’s needs.

Specific techniques:
Phonics-based interventions for dyslexia.
Handwriting and spelling support for writing difficulties.
 Use of manipulatives for math skills.
Treatment

Psychological Interventions:
 Cognitive-behavioral therapy (CBT) for comorbid anxiety or low self-
esteem.

Assistive Technologies:
 Text-to-speech, speech-to-text software, calculators.


Parent/Teacher Training:
 Educate stakeholders on how to support the child.
Treatment

Pharmacotherapy:
 Only for co-occurring conditions like ADHD or anxiety.
Course and Prognosis

Course Prognosis
Chronic condition; skills may improve Challenges may persist into adulthood,
with intervention but rarely normalize. affecting academic and occupational
 success.
Early identification and intervention
lead to better outcomes.  However, many individuals develop
compensatory strategies and excel
in other areas.
 Tics Disorders-Tourette’s Disorder
DEFINITION
TOURETTE'S DISORDER IS A NEURODEVELOPMENTAL CONDITION SEEN IN CHILDREN AND IS CHARACTERIZED BY MULTIPLE
INVOLUNTARY MOTOR TICS AND AT LEAST ONE VOCAL TIC. IT IS ALSO THE MOST SEVERE OF THE TIC DISORDERS

A TIC IS A SUDDEN, RAPID, RECURRENT, STEREOTYPED MOTOR MOVEMENT OR VOCALIZATION.

MOST COMMON MOTOR TICS INCLUDES THE FACE AND HEAD. E.G. BLINKING
VOCAL TICS MANIFESTS AS: ECHOLALIA- REPEATING WORDS FROM OTHER PERSONS & COPROLALIA- USE OF VULGAR OR
INAPPROPRIATE WORD

EPIDEOMIOLOGY
PREVALENCE: ~0.3%–0.8% OF CHILDREN WORLDWIDE.
MALE-TO-FEMALE RATIO: ~4:1.
ONSET USUALLY OCCURS BETWEEN 4–6 YEARS OF AGE, WITH PEAK SEVERITY BETWEEN 10–12 YEARS.
 Tourette’s Disorder cont’d
 Aetiology-Multifactorial and may be genetic or non-genetic
 Genetic: Strong familial link
 Non-genetic/Environmental: Prenatal/perinatal complications e.g. older paternal age, maternal smoking ,
infections (e.g., streptococcal infections in poststreptococcal autoimmune neuropsychiatric disorders
associated with streptococcal infection(PANDAS).

 Clinical Signs
 Motor tics: Sudden, repetitive movements (e.g., blinking, grimacing, head jerking).
 Vocal tics: Repetitive sounds (e.g., grunting, sniffing, throat clearing).
 Tics are involuntary but may be temporarily suppressed with effort.
 Tics often worsen with stress, excitement, or fatigue.
Tourette’s Disorder cont’d

 Diagnostic Criteria DSM-5

1. Multiple motor tics and at least one vocal tic.
2. Tics persist for more than 1 year.
3. Onset before 18 years.
4. Symptoms not attributable to substances or other medical conditions e.g cocaine or Huntington’s disease

 Treatment
 Behavioral: Comprehensive behavioral intervention for tics (CBIT)- focuses on habit reversal
 Pharmacological: only utilized if tics become impairing
 Dopamine receptor blockers (e.g., risperidone, haloperidol).
 Alpha-2 adrenergic agonists (e.g., clonidine, guanfacine).
 Support: Psychoeducation, addressing comorbidities (e.g., ADHD,) OCD.
Tourette’s Disorder

 Differential Diagnosis

1. Transient tic disorder.

2. Persistent (chronic) motor or vocal tic disorder
3. Other movement disorders (e.g., dystonia, myoclonus).

 Prognosis
1. Many experience symptom reduction in adolescence or adulthood.
2. Tics persist into adulthood in ~20–30% of cases, often at reduced severity.
 Elimination Disorders

 Enuresis
 Definition
Repeated involuntary or intentional urination into bed or clothes at least twice weekly for 3 months in a child
aged ≥5 years.

 Epidemiology
 Prevalence: ~5–10% in 5-year-olds, ~1% in adolescents. Prevalence decreases with age
 More common in boys.
 Nocturnal enuresis more common in boys while diurnal enuresis more common in girls
Enuresis cont’d

 Aetiology
 Biological- poor bladder musculture or neurological control

 Behavioural- faulty learning, stressful events

 Primary enuresis: Delay in achieving bladder control. E.g. reduced bladder capacity

 Secondary enuresis: Triggered by stress, infections, or trauma. E.g. cystitis, child abuse

 Clinical Signs
 Nighttime (nocturnal) or daytime (diurnal) wetting.

 May be associated with psychosocial stressors.

 Enuresis cont’d
 Diagnostic Criteria(DSM-5)

1. Repeated urination into bed or clothes.

2. At least twice per week for 3 months.

3. Child aged ≥5 years.

4. Can occur during sleep or waking hours or both

5. Not due to medical conditions or substances e.g diabetes insipidus, diuretic

 Treatment
 Spontaneous remission- 5-10% by adolescence
 Behavioral interventions: Bedwetting alarms-moisture detecting mattresses, scheduled toileting.

 Desmopressin (synthetic ADH).

 Psychoeducation
Enuresis cont’d

 Differentials Diagnosis
 Urinary tract infection (UTI).

 Diabetes mellitus or insipidus.

 Neurogenic bladder

 Prognosis
Most children outgrow enuresis without long-term consequences
Elimination Disorder Cont’d

 Encopresis

 Definition
Repeated passage of feces into inappropriate places (e.g., clothing) involuntarily or intentionally, at least once
per month for 3 months in a child aged ≥4 years

 Epidemiology
 Prevalence: ~1%–3% in 4-year-olds.

 More common in boys.

Encopresis cont’d

 Aetiology- Functional constipation: Most common cause, leading to overflow incontinence.

 Psychological factors: Family stress, oppositional behavior.

 Neurological or structural abnormalities (rare).

 Clinical Signs
 Soiling of clothes.

 History of constipation, painful defecation, or withholding stools.

 Associated abdominal pain or distension.

Encopresis cont’d

 Diagnostic criteria(DSM-5)

1. Repeated passage of feces into inappropriate places, involuntary or intentional

2. At least once per month for 3 months.

3. Child aged ≥4 years.

4. Not attributable to medical conditions e.g laxatives, anal fissures

 Treatment

 Address constipation(with constipation): Dietary fiber, stool softeners (e.g., polyethylene glycol, enemas).

 Behavioral therapy(without constipation): Scheduled toilet use, positive reinforcement.

 Psychotherapy for emotional issues.

Encopresis cont’d

 Differential Diagnosis
 Hirschsprung’s disease.

 Inflammatory bowel disease.

 Pediatric constipation

 Prognosis
 With treatment, most children achieve continence.

 Chronic issues possible if untreated.

 References

 American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 5th-TR ed.,
American Psychiatric Association, 2022.
 ---. “What Is Autism Spectrum Disorder?” Psychiatry.org, American Psychiatric Association, Jan. 2024,
www.psychiatry.org/patients-families/autism/what-is-autism-spectrum-disorder.
 Autism Research Institute. “What Is Autism?” Autism Research Institute, 2024, autism.org/what-is-
autism/.
 Centers for Disease Control and Prevention. “About Autism Spectrum Disorder.” Autism Spectrum
Disorder (ASD), 14 May 2024, www.cdc.gov/autism/about/index.html.
 World Health Organization. “Autism Spectrum Disorders.” World Health Organization, World Health
Organization, 15 Nov. 2023, www.who.int/news-room/fact-sheets/detail/autism-spectrum-disorders .
 Sadock, Benjamin J, et al. Kaplan & Sadock’s Synopsis of Psychiatry : Behavioral Sciences/Clinical
Psychiatry. 11th ed., Philadelphia, Wolters Kluwer, 2015.
 Ganti, Latha, et al. First Aid for the Psychiatry Clerkship. New York, Mcgraw-Hill Education / Medical,
2019.