SUBSTANCE USE AND ADDICTIVE DISORDERS
Dependence
- Craving:
- Strong desire or compulsion to take a substance.
- Withdrawal Symptoms:
- Develop after reducing or stopping the substance.
- Physical symptoms: tremors.
- Psychological symptoms.
- Tolerance:
- Increased amount of substance needed for same effect.
- Tolerance and withdrawal suggest physical dependence.
- Difficulty controlling substance-taking behaviour.
- Progressive neglect of alternative pleasures or interests.
- Persistence despite clear evidence of harmful consequences.
- DSM-5 uses the diagnosis of Substance Use Disorder.
Inebriant
- CNS depressants.
- Order of toxicity: Ethanol < Methanol < Isopropyl alcohol
- Effects: Male < Female (D/t ↓water, ↑fat).
Alcohol

- Active ingredient: Ethyl alcohol or ethanol (C2H5OH).
Issue of drunkenness certificate:
Smell of alcohol | Motor coordination | Opinion |
- | Normal | Not consumed alcohol |
+ | Normal | Consumed alcohol but no influence |
+ | Abnormal | Consumed alcohol and under influence |
The stages of change model (cyclical):

- Mnemonic: PC addicted says DARM
- Stages
- Enter
- Precontemplation
- No
- Affected by motivation → can change to maybe
- Contemplation
- Maybe
- Determination (Exit & re-enter at any stage)
- Prepare
- Action
- Action
- Relapse (Exit & re-enter at any stage)
- Maintenance
Screening Test

- CAGE Questionnaire:
- Positive on ≥2 suggests Alcohol Use Disorders.
- Cut down on Drinking.
- Annoyance when asked about drinking.
- Guilty about drinking.
- Eye-opener needed in the morning.
- AUDIT: Alcohol use disorder identification test.
- MAST: Michigan alcoholism screening test.
- SADQ:
- Severity of alcohol dependence questionnaire.
Alcohol Intoxication
ã…¤ | ã…¤ |
Legal level in India | 30 mg % |
Critical level | 150 mg % ↳ Ataxia ↳ Incoordination |
Alcohol blackouts | 200-300 mg/dl |
McEwan sign | > 250 mg% ↳ Altered constriction and dilatation of pupil |

- McEwan sign
- > 250 mg% → Altered constriction and dilatation of pupil
- Mceven - Uneven
- Hippus drinking alcohol (), with barbie () eating a cone (aconitase)

- NOTE on all McEwans
- Triangle → Access to Mastoid
- Sign on hydrocephalus → Crackpot sound on percussion
- Alcohol → Altered constriction and dilatation of pupil
- MCEwan
- Mastoid
- Crackpot
- unEven pupils
- Morbid Jealosy
- Munich-Beer heart: DCM/ A Fib
- Mellanby effect → Urge to Drink more and more → till blackout
- Me ila -but Buy more
- Marchiafava Bignami
- Widespread demyelination of Corpus callosum
- March il bigname call cheyth - Callosum
- Markers
- CDT = Carbohydrate-Deficient Transferrin
- Most specific
- GGT → Sensitive
- High blood alcohol concentration after consumption.
- Alcohol is a CNS depressant.
- Anterograde amnesia is seen during intoxication.
- Patient can't remember events after intoxication

Holiday heart syndrome:
- Sudden arrhythmia
Punishment for crime under:
- Involuntary intoxication
- Not liable: 23 BNS.
- Mnemonic: 23 year old → nirbandich kudipikkum
- Voluntary intoxication
- Liable: 24 BNS.
- Mnemonic: 24 year old → Voluntarily kudikkum
Alcohol Withdrawal Symptoms
- Develop after reducing or stopping alcohol intake.
6-8 hours:
- Most common sign:
- Tremulousness (coarse tremors).
- Other symptoms:
- GI:
- Nausea, Vomiting.
- Autonomic Hyperactivity:
- Anxiety, Sweating, Mydriasis, Tachycardia, Hypertension.
8-12 hours:
- Alcoholic hallucinosis.
- Auditory Hallucinations >> Visual / Tactile
- Occurs in clear consciousness.
12-24 hours:
- Seizures.
- Generalized Tonic-Clonic Seizures (GTCS).
- Known as Rum fits.
Within 72 hours (Peak: 48-72 hrs):
- Delirium tremens.
- Present after 72 hours
- Mental manifestations (GHN mnemonic):
- Global confusion.
- Disoriented (Time, place, person).
- Hallucinations.
- Visual > Auditory
- Nightmares.
- Physical manifestations show autonomic hyperactivity:
- High blood pressure.
- High heart rate.
- High body temperature.
- Diaphoresis.
- Most severe form of alcohol withdrawal.
- A medical emergency.
- Untreated mortality rate: 20%.
- Chlordiazepoxide is Rx
Treatment
- Detoxification.
- Maintenance.
Detoxification
- Manages withdrawal symptoms.
- Duration: 7-14 days.
- Drug of choice:
- Benzodiazepines (BZD) + Thiamine.
- Short-acting: Lorazepam.
- Long-acting: Chlordiazepoxide, Diazepam.
- For withdrawal Hallucinosis, Seizures, or Delirium Tremens:
- Acute infection can trigger delirium tremens
- DOC: Chlordiazepoxide
- Requires higher initial doses, then tapered.
- Dose reduction: 20% daily from the first day's dose.
- BZD is stopped by day 7-14.
- Treatment in Liver Disease (Deranged LFTs):
- Preferred drugs:
- Lorazepam > Oxazepam > Temazepam
- (Mnemonic: Liver OK).
- Undergo Glucuronidation
- No active metabolites.
- Avoid Chlordiazepoxide, Diazepam.
Maintenance
- Goal: Maintain Abstinence.
- Includes Pharmacological and Non-Pharmacological Treatment.
Pharmacological Treatment
- Deterrent Agent (Aversive Agent):
- Drug: Disulfiram.
- MOA:
- Irreversibly inhibits Aldehyde Dehydrogenase (ALDH).
- Effect:
- Inhibits acetaldehyde metabolism.
- Increases acetaldehyde concentration.
- Acetaldehyde is toxic.
- Produces unpleasant symptoms:
- nausea, vomiting, burning sensation.
- Severe reaction:
- MI or respiratory depression.
- Use in motivated patients only.

- Anticraving agents:
- Mnemonic: Alcohol NOT BF
- Alcohol: Acamprosate.
- N: Naltrexone > Acamprosate
- O: Ondansetron.
- T: Topiramate.
- Best: Baclofen.
- Friend: Fluoxetine.
- Acamprosate: NMDA (Glutamate) receptor antagonist.
- Naltrexone: Opioid antagonist (mu).
Non-pharmacological treatment
- Cognitive Behavioural Therapy (CBT).
- Alcohol Anonymous (AA):
- Self-help groups.
- Follow a 12-step approach.
Alcohol Induced Neurocognitive Disorders
- Associated with long-term alcohol use.
- Wernicke's encephalopathy.
- Korsakoff psychosis/syndrome.
Wernicke's Encephalopathy
- Symptoms (Mnemonic: GOA):
- G: Global Confusion.
- Mammillary bodies/Papez circuit
- O: Ophthalmoplegia
- 6th nerve palsy → most common
- A: Ataxia.
- Cerebellar neurons
- Cause:
- In acute thiamine deficiency.
- e.g., those receiving dextrose infusion
- without prior thiamine supplementation.
- Neuropathology:
- Lesions in
- Mammillary bodies >>>
- Hippocampus
- Thalamus
- Hypothalamus
- Treatment: Thiamine Supplementation.
- Reversible with early treatment
- Rapid response is expected.
- No response suggests
- Pellagric encephalopathy
- treat with Niacin
Wernicke Terms | ã…¤ |
Wernicke pupil | • OT lesion |
Wernicke Korsakoff syndrome | • In Alcoholics • D/t Thiamine deficiency • CAS → Confusion, Ataxia, Squint |
Korsakoff Syndrome
- Develops from chronic, untreated thiamine deficiency.
- Leads to nerve atrophy.
- Affected: mammillary bodies > Frontal lobes
- Symptoms:
- Impaired recent memory.
- Anterograde amnesia >>
- Retrograde amnesia.
- Confabulation:
- Making stories to fill memory gaps.
- Sensory agnosia
- Cause: Thiamine (Vitamin B1) deficiency.
- Treatment:
- Thiamine supplementation.
- 100 mg,
- 2-3 times/day for 3-12 months.
- Prognosis:
- Irreversible.
- Full recovery in only 20% of patients.
Methanol:

- Illicit liquor, AKAÂ wood alcohol.
- Mass poisoning:Â Hooch tragedy.
- Symptoms:
- Abdominal pain/vomiting.
- Blurring of vision.
- Blindness (Optic atrophy).
- Only High anionic gap metabolic acidosis (HAGMA).
- Antidote:
- FomepizoleÂ
- Inhibit - Alcohol dehydrogenase
- Ethanol.
- Compete with methanol for aldehyde dehydrogenase
- ↓ formation of Formaldehyde (toxin)
Ethylene Glycol:
- Anti-freeze solution.
- Oxalic acid:
- Hypocalcemia.
- Urine cast
- Renal tubular damage.
- Calcium monohydrate stones (envelope)
- Glycolic acid
- HAGMA
- Net:
- Ethylene glycol → HAGMA + Hypocalcemia
- Methanol → HAGMA only
- Treatment:
- Fomepizole.
- Ethanol.
- Calcium gluconate.
Opioids
- Source: Opium poppy plant - Papaver somniferum.
- Most common abused opioid: Heroin (Diacetyl Morphine).
- Street names: Smack, Brown sugar.
Opioid Intoxication
- Clinical triad:
- Respiratory depression.
- Pinpoint pupils (Miosis).
- Coma.
- Treatment:
- IV Naloxone (short-acting opioid antagonist).
Opioid Withdrawal
- Cold turkey: Withdrawal
- Yawning, diarrhea, lacrimation, Mydriasis
- Symptoms are flu-like:
- Muscle Cramps, Bone aches, Abdominal Cramps.
- Diarrhoea, lacrimation, Rhinorrhea, Sweating.
- Piloerection (Gooseflesh).
- Yawning.
- Insomnia,
- Autonomic fluctuations.
1. Detoxification
- Manages withdrawal symptoms.
- Agonist Therapy:
- Methadone:
- Opioid Agonist (mu).
- Mnemonic: Methadone is method number 1 to treat
- Buprenorphine:
- Partial mu agonist + κ Antagonist
- NOTE:
- Morphine → More μ & κ + → Morphine more (μ & κ )
- Pentazocine → Partial μ & κ +
- Buprenorphine → bU → μ → Partial μ, Antagonist at κ
- Symptomatic Treatment:
- Clonidine:
- α-2 Adrenergic Agonist
- Reduces autonomic symptoms (Sweating, Restlessness, Tremor).
- Pain: NSAIDs.
- Sleep: Benzodiazepines.
2. Maintenance
- Prevents relapse.
A. Pharmacological treatment
- Opioid Substitution Therapy (OST):
- Substitute illicit, short-acting opioid with a safe, longer-acting one.
- Drugs:
- Methadone
- Buprenorphine.
- Opioid Antagonist Treatment:
- Drug:
- Naltrexone
- mu receptor antagonist
- Blocks opioid receptors,
- preventing euphoria from external opioid use.
B. Non-Pharmacological Treatment
- Cognitive Behaviour Therapy (CBT).
- Narcotic Anonymous (NA):
- 12-step,
- self-help group.
Cannabis

- Most common illicit substance (India and World).
- Some of the most common substances used:
- In India, Tobacco>Alcohol
- In world, Alcohol>Tobacco
- Now, the most common substance is Caffeine
- AKA Grass/Rope/Hash/Joint/Weed/Indian hemp/MJ/Charas/Marijuana
- Burnt rope smell → Cannabis
- Can full of grass
- Can full of rope
- Can with Charakk MJ
- Active principle: ∆-9 Tetrahydrocannabinol (∆-9 THC).
- Mnemonic: Teach (TH) to take cannabis (C)
Preparation | Part of plant | Active principal % |
Bhang | Dried leaves | < 15 % |
Ganja (Joint/Reefer) | Dried flower (Female plant) | 15 - 25 % |
Charas/Hashish | Dried resin | 25 - 40 % |
Hash oil | Resin | Most potent: 60 - 70 % Highest concentration of TetraHydroCannabinol |
Majoon | Sweet prepared with Bhang | ã…¤ |
- Mnemonic:
- Bank(bhang) il ninn leave (leaf) eduth flower(dried flower) kond gancha() yude aduth poyi. Dry (dried resin) aayirunna charakkine (charas) rasippikan(resin) oil( hash oil) itt
- Source:
- Hemp plant or Cannabis Sativa.
Cannabis Intoxication
- Symptoms:
- Euphoria.
- Sense of Time Distortion (slowing down).
- Redness of Conjunctiva.
- Increased Appetite.
- Vivid dreams
- "stoned" or "high."
- Hallucinations.
- High dose: Delirium.
Cannabis Withdrawal
- Symptoms:
- Irritability, Anxiety.
- Sleep difficulty (Insomnia, disturbing dreams).
- Decreased Appetite,
- Decreased Mood.
- Only Mild Physical:
- Tremors, sweating, Fever, Abdominal Pain.
Associated Phenomena with Cannabis
Chronic cannabis abuse:
- Mnemonic: AIR
- CanaBIS ⇒ BUS (hindi) ⇒ Stop → Amotivation → amok
- Amotivational syndrome.
- Unwillingness to persist in tasks.
- Apathetic, Lethargic, weight gain.
- Occurs after chronic use.
- Insanity:
- Hashish/Hemp insanity.
- Psychotic symptoms (Delusions, Hallucinations).
- Disappear within a month of stopping use.
- Cannabis is a risk factor for Schizophrenia.
- Run amok:
- Homicidal f/b suicidal
- Homicidal impulse.
- Development of Rage
- may hurt or kill others.
- Not criminally liable: 22 BNS
- Two two loose screws → Not liable
- Bad Trip
- Restlessness
- Fearful
- Panic Symptoms
- Flashback:
- Re-experiencing symptoms days or weeks after last use.
Treatment
- Mild withdrawal:
- Supportive care.
- Moderate to severe:
- Short-term Benzodiazepines.
Hallucinogens
- Cause hallucinations and delusions.
Examples:
- Phencyclidine (PCP): Angel Dust → Ketamine analogue → Dissociation
- Ketamine → Dissociation
- LSD: Lysergic Acid Diethylamide.
- Reflex Hallucination (Morbid Synasthesia):
- Real stimulus in one sense produces hallucination in another.
- Smelling colours and seeing sound? Think LSD
- Flashbacks:
- flashes of color, visual distortion
- Bad Trip
- Mescaline: From Cactus.
- Psilocybin: From Mushrooms.
- MDMA (Ecstasy)
- Paranoid hallucinatory syndrome
- Violent behavior
- Choreiform movements
Withdrawal Symptoms
- Lacks withdrawal symptoms.
- Therefore, lacks physical dependence.
Club Drugs
- Also called Rave Drugs
- Mnemonic: Club drug → KFG →ELM
- Ecstasy (MDMA).
- Flunitrazepam (Rohypnol).
- Gamma Hydroxy Butyrate (GHB).
- Ketamine,
- LSD,
- Methamphetamine.
- Date Rape Drugs: KGF
- Cause disorientation and sedation.
- K: Ketamine.
- G: Gamma Hydroxy Butyrate (GHB)
- F: Flunitrazepam.
Stimulants
- Cocaine.
- Amphetamine (Superman drug, Eve)
Cocaine
- Source: Erythroxylum coca plant.







- Excited delirium.
- AKA Coke/snow white lady/she/crack smokable.
- M/c route of abuse: Snorting.
- Huffing:
- Drug inhaled from a cloth
- Effects of Vasoconstriction:
- Rhinorrhea,
- nose bleed,
- Nasal Septal Perforation.
- Jet Black Pigmentation of tongue (long-term use).
Acute poisoning:
Body packer syndrome.
- Accidental rupture of swallowed cocaine (Smuggling).
- Sympathomimetic action (↑HR, ↑BP, ↑temp, ↑sweating, dilated pupils).
- u can remember it as a coconut fell on head of a guy with fever..
- he will be agitated
- hyper reflexiveÂ
- heart rate increased
- pupil dilated and restlessÂ
- Feeling of well-being.
- Treatment
- Amyl nitrate
- Mnemonic: Coconut Amy de thalayil veenu
Chronic abuse:

- Septal perforation (snorting).
- Black staining: Tongue/Teeth.
- Peripheral gangrene (peripheral vasoconstriction).
- Cocaine bugs/Magnan syndrome/formication.
- Tactile hallucination.
Adverse Effects of Cocaine
- Potent Sympathomimetic.
- Causes Vasoconstriction:
- Leads to Hypertension, end-organ damage.
- Increases heart rate.
- Can cause Myocardial infarction.
Cocaine Intoxication
- Euphoria, Mydriasis, Tachycardia, Hypertension.
- Cardiac Arrhythmias, Seizures.
- Auditory Hallucinations, Paranoid Ideations.
- Cocaine bugs (Formication):
- Tactile Hallucinations of insects crawling under the skin.
- Leads to scratch marks.
- Dependence:
- Strong Psychological Dependence.
- Mild Physiological dependence.
Cocaine Induced Psychotic Disorder
- Hallmark:
- Paranoid Delusions,
- Auditory Hallucinations.
- Mimics Schizophrenia.
Treatment
- Withdrawal is usually mild.
- No pharmacologic agents reduce withdrawal intensity.
Speed Ball
- Combination of Cocaine + Heroin.
- Ventromedial nucleus (satiety center) acted on by
- Alpha melanocyte stimulating hormone (MSH) &
- Cocaine amphetamine regulated Transcript (CART)
- Eating Skin and Cocaine causes satiety
Tobacco
- Most common substance use disorder in India (excluding caffeine).
- Active ingredient: Nicotine.
- Forms: Beedi, Cigarettes (inhalational), Gutka (tubal).
Tobacco Withdrawal
- Symptoms:
- Intense Craving.
- Irritability, Anxiety.
- Difficulty concentrating.
- Insomnia.
- Bradycardia.
- Increased appetite, weight gain.
Treatment
1. Nicotine Replacement Therapy (NRT)
- Most common
- Long acting
- Patch (16 - 24 hrs)
- For Maintenance
- Short Acting
- For breakthrough carving
- Nasal spray > Lozenge > Gums
- Nasal spray → (Schedule H) → most effective.
- Lozenges
- Higher bioavailability than gums
- Avoid tea or coffee for 15 min post-NRT
- Gums and Lozenge require alkaline saliva for absorption
- should not be used within 15 minutes of drinking anything
- e-Cigarettes are now banned in India.
2. Bupropion
- Antidepressant (NDRI).
- Anti-smoking
- Mnemonic: Pion is a Smoker
- Vs. Buspirone (anti-anxiety)
- Mnemonic: Rona → with anxiety
- Contraindications:
- Seizure Disorders.
- Bulimia or Anorexia Nervosa.
- Uses:
- Antidepressant,
- Smoking cessation,
- ADHD
3. Varenicline
- DOC
- Most effective for maintenance.
- Partial agonist at the NE receptor (α4β2) → Nicotinic receptor
- Full agonist → α7
- Derived from Cytisine (Plant derivative)
- Mnemonic: Varane A4B2 sitil ninn kitti
- Adverse Effects:
- Neuropsychiatric:
- Somnambulism
- Vomiting
- Depression,
- suicidal ideations.
- Cardiovascular:
- CCF,
- Arrhythmia (in at-risk patients).
- Mneumonic:
- Varan akumbo smoking nirthum
- Suicide cheyyan thonnum, depression avum

Gambling Disorder
- Persistent, recurrent gambling behaviour.
- Characterized by:
- Impaired control over gambling.
- Gambling takes precedence over daily activities.
- Continuation despite negative consequences.
Gaming Disorder
- New diagnosis in ICD-11.
- Persistent or recurrent gaming behaviour.
- Characterized by:
- Impaired control over gaming.
- Gaming takes precedence over daily activities.
- Continuation despite negative consequences.
CHILD PSYCHIATRY
Attention Deficit Hyperactivity Disorder (ADHD)
- Neurodevelopmental disorder.
- Older name: Minimal brain damage/dysfunction.
Epidemiology & Course
- More common in boys.
- 40% remit at puberty or early adulthood.
- Symptom Remission Order:
- Hyperactivity remits first.
- Inattention remits last.
- Others are at risk for antisocial personality disorder & conduct disorder
- substance use disorder.
Clinical Features
- Inattention:
- Fails to give close attention, makes careless mistakes.
- Difficulty sustaining attention.
- Fails to finish work.
- Easily distracted and bored
- Hyperactivity & 3. Impulsivity:
- Hyperenergetic
- Fidgets or taps hands/feet.
- Leaves seat when expected to remain seated.
- Always "on the go," acts as if "driven by a motor."
- Talks excessively.
- Interrupts others, difficulty waiting for turn.
In Adults
- Anger management problems
- Dysfunctional relationships
- Symptoms of anxiety
- Substance use disorders
- Mood fluctuations
Diagnostic Criteria

- ≥ 6 attention symptoms +
- ≥ 6 hyperactivity/impulsivity symptoms:
- Duration > 6 months
- Present in ≥ 2 settings
- Onset < 12 years of age
Note:
- In adults:
- ≥ 5 attention symptoms
- ≥ 5 hyperactivity/impulsivity symptoms
- ADHD persists into adulthood in 40–50% of children (↓ hyperactivity with age)
DSM-5 Criteria
- Onset of symptoms before 12 years of age.
- Symptoms present in two or more settings (e.g., home, school) and is documented independently.
3 Subtypes
- Combined presentation.
- Predominantly inattentive presentation.
- Predominantly hyperactive/impulsivity presentation.
Treatment
- Pharmacotherapy is first-line.
- (Mnemonic: MAM teaches A2 B)
1. CNS Stimulants
- First choice of agents.
- Avoid in patients with cardiac risks.
- Methylphenidate:
- FDA approved.
- Drug of choice for ADHD.
- Dopamine agonist.
- Side effects:
- Growth suppression.
- For growth suppression: drug holiday.
- Exacerbation of tics,
- Headaches,
- Nausea,
- Insomnia,
- Amphetamine:
- 2nd drug of choice.
- Dopamine agonist.
- FDA approved.
- Superman drug
- Modafinil:
- α-1 agonist.
- Not FDA approved for ADHD.
2. Non-stimulants
- Used if poor response or side effects to stimulants.
- Atomoxetine:
- Norepinephrine reuptake inhibitor.
- Increased risk of suicidal ideation.
- Mnemonic: NRI () kk atmosphere () pidichillenkil suicide () cheyyum
- Viloxazine
- New drug
- Alpha-2 agonists:
- Clonidine, Guanfacine.
- Adverse effects: Sedation, headache, hypotension.
- Preferred in comorbid tic disorder
- Bupropion:
- Norepinephrine-Dopamine reuptake inhibitor (NDRI).
- Risk of seizures at higher doses.
- Not FDA approved for ADHD.
Oppositional Defiant Disorder (ODD)
- Seen in children < 10 years (onset in adolescence → Adolescent-onset ODD).
Features
- (≥ 6 months):
- Opposing nature, argumentative
- Vindictive (vengeful)
- Defiant
- Irritable → throw tantrums
Conduct Disorder (CD)
The parents of a 13-year-old boy have sought the assistance of a child psychiatrist due to their concerns. They have observed that the child frequently engages in dishonesty both at home and in school, displays disruptive behaviour towards his teacher, often intimidates younger children, and has been caught stealing money multiple times. What is the probable diagnosis for this child?
- Can develop in children with ODD
- Onset: 10–18 years
- Symptoms lasting > 6 months
Features:
- Defiant
- Destructive to people, animals, property
- Deceitful:
- Lying, manipulation
- Cheating, stealing
- Truancy → skipping classes < 13 years
Note:
Age | Condition |
> 18 years | Antisocial Personality Disorder (ASPD) |
10–18 years | Conduct Disorder (CD) |

Tourette Syndrome
- Definition
- Neurodevelopmental disorder
- Multiple motor tics + ≥1 vocal tic
- Duration > 1 year
- Onset < 18 years age
- Male >> Female
- Normal Intelligence
Tics
- Motor tics
- Eye blinking
- Facial grimacing
- Shoulder shrugging
- Coprolalia
- Involuntary obscene words
- Vocal tics
- Throat clearing
- Grunting
- Barking sounds
- Associations
- ADHD >> OCD
- Treatment
- First line
- Behavioral therapy
- Drugs
- Haloperidol
- Risperidone

Autism Spectrum Disorder
- Neurodevelopmental disorder.
- Onset usually before 3 years.
- M > F
- Some domains may improve with age.
- DSM-5 & ICD-11 use this single diagnosis.
- Previous term: Pervasive developmental disorder (PDD).
- Language impairment:
- Removed as a core symptom.
- Screening is recommended to all children b/w 18 - 24 months
- M-CHAT – Autism Screening
- Most appropriate screening tool
- Two-stage, parent-completed screening tool
- Scoring
- Score ≥ 8
- High risk for ASD
- Score 3–7
- Follow-up interview
Two Core Symptoms
- Deficits in Social Communications:
- Poor reciprocal social skills.
- Lack of social smiles, poor eye contact.
- Poor attachment behaviour.
- Difficulty making friends.
- Restricted, Repetitive Behaviors:
- Rigid, repetitive, monotonous activities.
- Stereotypies, mannerisms.
- Upset by changes in routine.
Associated Features & Genetics
- Associated:
- Intellectual disability (30%), Irritability.
- Genetic Factors:
- Most common: Fragile X syndrome.
- Second most common: Tuberous sclerosis.
Overlapping Disorders (Now under ASD)
- Autistic disorder
- Rett syndrome
- Childhood disintegrative disorder
- Asperger disorder
- PDD-NOS.
Asperger Syndrome
- More common in male children.
- Speech preservation.
- Key word: focus
- Focused skills & interests:
- Drawing, mathematics, painting, music.
- In current diagnostic criteria,
- No longer recognized as a separate diagnosis
- overlap with autism
The likely diagnosis for a girl who exhibits typical language milestones but primarily focuses on observing her own hands and lacks interaction with others is:
A. ADHD
B. Autism
C. Asperger's syndrome
D. Rett's syndrome
A. ADHD
B. Autism
C. Asperger's syndrome
D. Rett's syndrome
Rett Syndrome
- F > M
- Mutation in MECP2 gene on chromosome Xq28.
Course:
- Normal development for the first 5 months.
- 6 months - 2 years:
- Loss of acquired motor skills,
- replaced by stereotypic hand movements
- hand wringing
- Loss of acquired speech.
- Head growth decelerates (microcephaly).
- Poor coordination, ataxia.
- Seizures in 75%.
Treatment:
- Trofinitide (FDA approved 2023).
- For treatment of Rett syndrome in
- adults & paediatric patients
- ≥ 2 years
- It is a Tripeptide
- Synthetic analog of
- Glycine-Proline-Glutamate of N-Terminal Tripeptide of IGF-1
Specific Learning Disorder
- Neurodevelopmental disorder.
- ICD-11: Developmental learning disorder.
- Persistent difficulty in learning academic skills.
- Inconsistent with the child's intellectual ability.
- IQ is usually normal.
Subtypes
- With impairment in reading (Dyslexia):
- Difficulty recognizing words, poor comprehension, poor spelling.
- With impairment in written expression (Dysgraphia):
- Poor writing, spelling, and handwriting.
- With impairment in mathematics (Dyscalculia):
- Difficulty with numbers, signs (+, -), and calculations.
Intellectual Disability
- DSM-5: Intellectual Disability / Intellectual Development Disorder.
- ICD-11: Disorder of Intellectual Development.
- Previous term: Mental Retardation.
- Core Deficits:
- Intellectual functioning (reasoning, learning).
- Adaptive behaviour (conceptual, social, practical skills).
- Onset before 18 years.
IQ
- IQ = (Mental age / Chronological age) x 100.
- Denominator (Chronological age) should not exceed 15.
- Ranges:
- Normal: 90-109.
- Borderline: 70-89.
- Intellectual Disability: IQ < 70.
Severity Levels (Mental Retardation)
- Mild: IQ 50-69.
- Moderate: IQ 35-49.
- Severe: IQ 20-34.
- Profound: IQ <20.
- Severity also determined by adaptive behaviour.
Genetic Factors
- Most common overall:
- Down syndrome.
- Most common single gene cause:
- Fragile X syndrome.
Treatment
- Focus on psychosocial interventions.
- Behavioral therapy:
- Contingency management:
- Reward desired behaviors,
- punish undesired ones.
- Pharmacotherapy:
- Symptomatic treatment only.
- Antipsychotics for aggression.
- SSRIs for depression.
