Clinical Picture and Etiology of Neurodevelopmental Disorders: Attention-Deficit/Hyperactivity Disorder (ADHD), Autism Spectrum Disorders, Intellectua

Neurodevelopmental Disorders (DSM-5)

These disorders begin early in development, often before school age, and are characterized by developmental deficits that cause impairments of personal, social, academic, or occupational functioning.


1. Attention-Deficit/Hyperactivity Disorder (ADHD)

Clinical Picture:

  • Key Features:

    • Persistent pattern of inattention and/or hyperactivity-impulsivity.

    • Interferes with functioning or development.

    • Symptoms present before age 12 years.

    • Symptoms observed in two or more settings (e.g., home, school, work).

  • Inattention symptoms (examples):

    • Fails to give close attention to details; careless mistakes.

    • Difficulty sustaining attention in tasks or play.

    • Seems not to listen when spoken to directly.

    • Difficulty organizing tasks and activities.

    • Avoids/dislikes tasks requiring sustained mental effort.

    • Often loses things necessary for tasks (e.g., school materials, keys).

    • Easily distracted by extraneous stimuli.

    • Forgetful in daily activities.

  • Hyperactivity and impulsivity symptoms (examples):

    • Fidgets, taps hands or feet, squirms in seat.

    • Leaves seat when remaining seated is expected.

    • Runs about or climbs in inappropriate situations (in adolescents/adults: restlessness).

    • Unable to play or engage quietly.

    • "On the go," acting as if "driven by a motor."

    • Talks excessively.

    • Blurts out answers before questions are completed.

    • Difficulty waiting turn.

    • Interrupts or intrudes on others.

  • Specifiers (presentation types):

    • Predominantly Inattentive Presentation

    • Predominantly Hyperactive-Impulsive Presentation

    • Combined Presentation

Etiology:

  • Genetic factors:

    • High heritability (up to 76%).

    • First-degree relatives have higher rates.

  • Neurobiological factors:

    • Dysfunction in frontal-striatal circuits (prefrontal cortex and basal ganglia).

    • Deficits in dopamine and norepinephrine systems.

  • Environmental factors:

    • Low birth weight, prenatal exposure to tobacco or alcohol.

    • Lead exposure.

  • Psychosocial factors:

    • Family adversity and parental psychopathology may exacerbate symptoms but do not cause ADHD.


2. Autism Spectrum Disorder (ASD)

Clinical Picture:

  • Key Features:

    • Persistent deficits in social communication and social interaction across multiple contexts.

    • Restricted, repetitive patterns of behavior, interests, or activities.

    • Symptoms must be present in the early developmental period.

    • Symptoms cause clinically significant impairment.

  • Social communication deficits (examples):

    • Deficits in social-emotional reciprocity (e.g., abnormal social approach, reduced sharing of interests/emotions).

    • Deficits in nonverbal communicative behaviors (e.g., abnormal eye contact, lack of facial expressions).

    • Deficits in developing, maintaining, and understanding relationships.

  • Restricted and repetitive behaviors (examples):

    • Stereotyped or repetitive motor movements, use of objects, or speech (e.g., echolalia).

    • Insistence on sameness, inflexible adherence to routines.

    • Highly restricted, fixated interests (e.g., strong attachment to unusual objects).

    • Hyper- or hyporeactivity to sensory input (e.g., adverse response to specific sounds/textures).

  • Severity Specifiers:

    • Based on level of support required for social communication and restricted behaviors.

  • Associated Features:

    • Intellectual disability and/or language impairment.

    • Motor deficits, including odd gait.

    • Self-injurious behavior.

    • Uneven cognitive abilities (e.g., strengths in memory but deficits in abstract thinking).

Etiology:

  • Genetic factors:

    • High heritability; concordance rates are higher in monozygotic twins.

    • Multiple genetic pathways; rare mutations and chromosomal abnormalities (e.g., fragile X syndrome) linked.

  • Neurobiological factors:

    • Abnormalities in brain structure and function (e.g., accelerated brain growth early in life).

    • Differences in amygdala, hippocampus, and cerebellum.

  • Environmental factors:

    • Advanced parental age, prenatal exposure to certain medications (e.g., valproate).

    • Very low birth weight and prenatal infections might increase risk.

  • Psychosocial factors:

    • No evidence that parenting style causes ASD (debunks "refrigerator mother" theory).


3. Intellectual Disability (Intellectual Developmental Disorder)

Clinical Picture:

  • Key Features:

    • Deficits in intellectual functions confirmed by clinical assessment and standardized testing (IQ approximately 70 or below).

    • Deficits in adaptive functioning that result in failure to meet developmental and sociocultural standards for personal independence and social responsibility.

    • Onset during the developmental period (childhood).

  • Areas of Deficits:

    • Conceptual domain: Academic learning, abstract thinking, executive function.

    • Social domain: Awareness of others’ experiences, empathy, interpersonal communication skills, social judgment.

    • Practical domain: Personal care, job responsibilities, money management, recreation.

  • Severity Specifiers (based on adaptive functioning, not IQ alone):

    • Mild

    • Moderate

    • Severe

    • Profound

  • Associated Features:

    • Motor deficits, difficulties in emotional regulation.

    • Risk for psychiatric comorbidities (e.g., mood disorders, ADHD).

Etiology:

  • Genetic factors:

    • Chromosomal disorders (e.g., Down syndrome, fragile X syndrome).

    • Single-gene disorders.

  • Prenatal factors:

    • Maternal infections (e.g., rubella, cytomegalovirus).

    • Exposure to toxins (e.g., alcohol — fetal alcohol syndrome).

    • Malnutrition during pregnancy.

  • Perinatal factors:

    • Birth complications (e.g., asphyxia, prematurity).

  • Postnatal factors:

    • Traumatic brain injury.

    • Severe neglect or abuse.

    • Severe environmental deprivation.

  • Unknown causes:

    • In many cases, the exact cause remains unidentified.


Summary Table

Disorder

Core Symptoms

Etiology

ADHD

Inattention, hyperactivity-impulsivity

Genetic (high heritability), neurobiological deficits (dopamine), environmental risks

ASD

Deficits in social communication; restricted/repetitive behaviors

Genetic mutations, neurodevelopmental brain changes, prenatal risks

Intellectual Disability

Deficits in intellectual and adaptive functioning

Genetic disorders, prenatal/perinatal/postnatal factors, environmental deprivation