🧠 Childhood Ataxia - Proforma

1. Bio-Demographic Data

• Name: [Patient Name]
• Age / Sex: [Age in completed years/months] / [Male/Female]
• Informant: [Mother / Father / Primary Caregiver] — Reliability: [Good / Fair / Poor]
• Address / Residence: [Urban / Rural / Semi-urban]
• Socioeconomic Status: [Class I to V as per Modified Kuppuswamy / BG Prasad Scale (Updated 2024)]
• Handedness: [Right / Left / Not yet established (<2 years)]
• Date & Time of Examination: [DD/MM/YYYY, HH:MM AM/PM]

2. Chief Complaints

1. Inability to walk / swaying while walking / unsteadiness since `[Duration]`
2. Trembling / shakiness of hands while reaching for objects since `[Duration]`
3. Slurred / scanning speech since `[Duration]`
4. Abnormal eye movements / oscillating vision since `[Duration]`
5. Associated symptoms (fever, headache, vomiting, seizures) since `[Duration]`

3. History of Present Illness (HPI)

A. Symptom Characterization (3C 1D Framework)

1. Ataxia & Gait Instability

• Onset: [Hyperacute (stroke/toxin) / Acute over 24-72h (cerebellitis, ADEM, labyrinthitis) / Episodic (metabolic, migraine, channelopathy) / Chronic progressive (tumors, Friedreich ataxia, Ataxia-Telangiectasia, leukodystrophy)]
• Progression: [Static / Progressively worsening / Improving / Intermittent]
• Truncal vs. Appendicular:
  • Truncal: Inability to sit unsupported, titubation of head/trunk, swaying while sitting or standing $\rightarrow$ indicates Vermis / Midline cerebellar lesion.
  • Appendicular: Swaying to one particular side, falling towards [Right / Left] $\rightarrow$ indicates Ipsilateral Cerebellar Hemisphere lesion.
  • Sensory: Worsens dramatically in the dark or with eyes closed (washing face) $\rightarrow$ indicates Dorsal column / Sensory ataxia.
  • Vestibular: Associated with true rotatory vertigo, nausea, vomiting, tinnitus, direction-fixed nystagmus $\rightarrow$ indicates Vestibular system lesion.

2. Upper Limb Incoordination & Tremors

• Difficulty reaching for toys, holding a cup, feeding, or writing/drawing.
• Shakiness that worsens as the hand gets closer to the target (Intention tremor / Dysmetria).
• Overshooting or undershooting objects (Hypermetria / Hypometria).
• Loss of fine motor coordination (buttoning shirt, tying shoelaces).

3. Speech Alterations

• Change in speech rhythm: Broken syllables, explosive or scanning speech (Dysarthria / Ataxic speech).
• Staccato speech vs. nasal tone vs. hoarseness.

4. Ocular Complaints

• Involuntary dancing / jumping eyes (Opsoclonus - dancing eyes-dancing feet syndrome / Kinsbourne syndrome).
• Oscillating vision / difficulty fixing gaze (Nystagmus / Ocular dysmetria / Oculomotor apraxia).

B. Negative History & Localization Checklist

Localization Checklist:
- [ ] No loss of consciousness / no altered sensorium (rules out diffuse encephalopathy/toxic metabolic coma)
- [ ] No focal motor seizures or generalized convulsions
- [ ] No focal limb weakness / paralysis / hemiparesis (rules out acute stroke / hemiplegic cerebral palsy)
- [ ] No cranial nerve palsies (no facial asymmetry, no squint, no dysphagia, no hearing loss)
- [ ] No sensory loss / numbness / paresthesias (rules out severe peripheral polyneuropathy)
- [ ] No bowel / bladder incontinence (rules out spinal cord compression / transverse myelitis)

C. Etiological Inquiry

1. Post-Infectious / Demyelinating / Inflammatory

• History of fever with exanthem (Varicella / Chickenpox 1–3 weeks prior, Measles, Mumps, Rubella, Enterovirus, EBV).
• History of acute gastroenteritis, upper respiratory tract infection, or nonspecific viral prodrome.
• History of recent vaccination (within 1–4 weeks).

2. Space Occupying Lesions (Raised Intracranial Pressure)

• Early morning headache waking the child from sleep, associated with projectile vomiting not preceded by nausea.
• Increasing head size, irritability, neck pain, behavioral changes, or scholastic deterioration.

3. Toxic / Drug Ingestion

• Accidental ingestion of antiepileptics (phenytoin, carbamazepine, valproate, lamotrigine), sedatives (benzodiazepines, barbiturates), antihistamines, alcohol, organophosphates, or piperazine.

4. Genetic / Neurodegenerative / Metabolic

• Episodic ataxia precipitated by stress, fever, or high-protein intake (Urea cycle defect, Maple syrup urine disease, Hartnup disease).
• Photosensitive skin rash, pellagra-like dermatosis (Hartnup disease).
• Oculocutaneous telangiectasia on conjunctiva/ears, recurrent sinopulmonary infections (Ataxia-Telangiectasia).
• Chronic steatorrhea, fat malabsorption, failure to thrive (Abetalipoproteinemia, Vitamin E deficiency).
• Jaundice, tremors, behavioral changes, family history of liver disease (Wilson disease).
• Skeletal deformities (pes cavus, scoliosis), early exertional fatigue/palpitations (Friedreich ataxia).
• Saccadic eye movements, myoclonus, abdominal distension/mass (Neuroblastoma / Opsoclonus-Myoclonus-Ataxia Syndrome).

4. Past, Birth, Developmental & Dietary History

A. Past Medical & Surgical History

• Prior similar episodes of unsteadiness, ataxia, or transient focal deficits.
• History of chickenpox, otitis media, mastoiditis, or tuberculosis contact.

B. Birth History

• Antenatal: Maternal viral infections, teratogenic drugs, ultrasound abnormalities (Dandy-Walker malformation, cerebellar hypoplasia).
• Natal: Gestational age at delivery [Term / Preterm at __ weeks], birth weight [__ kg], birth asphyxia / delayed cry, NICU admission (hypoxic-ischemic encephalopathy causing ataxic CP).
• Postnatal: Neonatal hyperbilirubinemia (kernicterus causing athetoid/ataxic CP), neonatal seizures.

C. Developmental History

• Milestone acquisition: Gross motor, Fine motor, Language, and Social domains.
• Assessment for neurodevelopmental delay vs. acute plateau vs. true neuroregression (loss of previously attained milestones).
• Current developmental quotient (DQ) or mental age: [Calculated / Clinically estimated].

D. Dietary History & 24-Hour Recall

• Assessment of calorie and protein intake; check for micronutrient deficiencies (Vitamin B12, Vitamin E deficiency).
• Protein intolerance / aversion to protein foods (inborn errors of metabolism).

| Meal Time | Food Item & Composition | Quantity | Energy (kcal) | Protein (g) |
|---|---|---|---|---|
| Breakfast | `[Items]` | `[Amount]` | `[kcal]` | `[g]` |
| Lunch | `[Items]` | `[Amount]` | `[kcal]` | `[g]` |
| Snacks | `[Items]` | `[Amount]` | `[kcal]` | `[g]` |
| Dinner | `[Items]` | `[Amount]` | `[kcal]` | `[g]` |
| **Total** | | | **`[Total kcal]`** | **`[Total Protein g]`** |
| **Recommended (RDA)** | | | **`[RDA kcal]`** | **`[RDA Protein g]`** |
| **Deficit / Excess** | | | **`[Deficit kcal]`** | **`[Deficit g]`** |

5. Family & Socioeconomic History

• Consanguinity: [Degree of consanguinity / Non-consanguineous].
• Three-generation pedigree chart: Inquire about early childhood deaths, sibling unsteadiness, cardiomyopathy, diabetes, mental retardation, or consanguinity.
• Immunization History: National Immunization Schedule (NIS) compliance, optional vaccines (Varicella vaccine status).

6. Physical Examination

A. General Physical & Behavioral State

• Prechtl / Child Behavioral State: [State 1 to 5: Calm, alert, cooperative / Irritable / Drowsy]
• Vitals:
  • Heart Rate: [__ bpm] (regular/irregular, character)
  • Respiratory Rate: [__ cpm] (pattern)
  • Blood Pressure: [__ mmHg] ([__ centile for age, sex, and height])
  • Peripheral Pulses: [All peripheral pulses palpable, symmetric]
  • Capillary Refill Time (CRT): [< 2 seconds]
  • Temperature: [Afebrile / __ °F]
• General Signs: Pallor [-/+], Icterus [-/+], Cyanosis [-/+], Clubbing [-/+], Lymphadenopathy [-/+], Edema [-/+].

B. Anthropometry & Nutritional Classification

• Weight: [__ kg] ($Z$-score: [__ SD])
• Height / Length: [__ cm] ($Z$-score: [__ SD])
• Weight-for-Height: [__ %] ($Z$-score: [__ SD])
• Head Circumference: [__ cm] ($Z$-score: [__ SD])
• Mid-Upper Arm Circumference (MUAC): [__ cm]
• WHO / IAP Nutritional Classification: [Normal / MAM / SAM / Stunted].

C. Neurocutaneous & Dysmorphic Markers

• Skin: Oculocutaneous telangiectasia (bulbar conjunctiva, pinna, butterfly distribution), hypopigmented macules, café-au-lait spots, neurofibromas, healing varicella scars/crusts.
• Skeletal: Pes cavus, hammer toes, kyphoscoliosis (Friedreich ataxia), arachnodactyly.
• Eyes: Kayser-Fleischer ring (Wilson disease), cherry red spot, retinitis pigmentosa, cataract, optic atrophy, oculomotor apraxia.

7. Central Nervous System (CNS) Examination

A. Higher Mental Functions (HMF)

• Sensorium: [Conscious, oriented to parents and surroundings]
• Mood & Behavior: [Normal / Irritable / Inappropriate laughing / Euphoric]
• Speech: [Fluent / Dysarthric / Scanning / Staccato / Explosive / Aphasic]
• Memory & Intelligence: [Age-appropriate / Cognitive delay]

B. Cranial Nerves

• CN I (Olfactory): [Grossly intact / Not evaluated]
• CN II (Optic): Visual acuity: [Intact / Impaired]; Visual fields: [Full by confrontation]; Fundoscopy: [Normal disc margins / Papilledema / Optic atrophy / Macular cherry red spot]
• CN III, IV, VI (Ocular Motor):
  • Extraocular movements: [Full, smooth / Saccadic dysmetria / Oculomotor apraxia]
  • Nystagmus: [Absent / Present: Horizontal / Vertical / Rotatory; Direction; Fast phase; Symmetrical / Asymmetrical]
  • Opsoclonus: [Absent / Present (rapid, involuntary, chaotic conjugate saccades)]
  • Pupils: [Size __ mm, Bilaterally equal, reactive to light and accommodation]
• CN V (Trigeminal): Corneal reflex [Present]; Jaw strength and sensation [Intact].
• CN VII (Facial): Facial symmetry [Symmetrical nasolabial folds, no deviation, full eye closure].
• CN VIII (Vestibulocochlear): Gross hearing [Intact to whisper/clapping]; Vestibulo-ocular reflex [Normal].
• CN IX, X (Glossopharyngeal, Vagus): Uvula [Central], Gag reflex [Present], Swallowing [Normal, no pooling of secretions].
• CN XI (Spinal Accessory): Sternocleidomastoid & Trapezius bulk and power [Normal].
• CN XII (Hypoglossal): Tongue protrusion [Central, no fasciculations, no hemiatrophy].

C. Comprehensive Cerebellar Examination Battery

| Cerebellar Sign / Test | Clinical Method | Right Side | Left Side | Clinical Interpretation |
|---|---|---|---|---|
| **Titubation** | Observe head and trunk swaying while sitting unsupported | `[Absent / Present]` | `[Absent / Present]` | Vermis / Midline lesion |
| **Finger-Nose Test (FNT)** | Index finger from patient's nose to examiner's moving finger | `[Normal / Dysmetria / Tremor]` | `[Normal / Dysmetria / Tremor]` | Ipsilateral hemisphere |
| **Finger-Finger Test** | Touch index fingers together in midline with eyes open | `[Intact / Overshoot / Undershoot]` | `[Intact / Overshoot / Undershoot]` | Dysmetria |
| **Heel-Knee-Shin Test (HKST)**| Slide heel of one leg down the opposite anterior shin | `[Smooth / Ataxic / Tremor]` | `[Smooth / Ataxic / Tremor]` | Ipsilateral cerebellar hemisphere |
| **Dysdiadochokinesia** | Rapid alternating pronation/supination of hands | `[Smooth / Impaired / Irregular]` | `[Smooth / Impaired / Irregular]` | Neocerebellar lesion |
| **Holmes Rebound Phenomenon** | Sudden release of flexed arm against resistance | `[Normal arrest / Exaggerated rebound]`| `[Normal arrest / Exaggerated rebound]`| Loss of cerebellar antagonistic braking |
| **Stewart-Holmes Sign** | Inability to check movement upon sudden release | `[Present / Absent]` | `[Present / Absent]` | Hypotonia & lack of synergistic control |
| **Pendular Knee Jerk** | Tap patellar tendon with legs dangling freely (>4 oscillations)| `[Present / Absent]` | `[Present / Absent]` | Cerebellar hypotonia |
| **Intention Tremor** | Tremor frequency increases near target (kinetic tremor) | `[Absent / Present]` | `[Absent / Present]` | Dentate nucleus / Superior cerebellar peduncle |
| **Postural Holding Test** | Arms outstretched with eyes closed (downward drift / tremor) | `[Stable / Tremor / Drift]` | `[Stable / Tremor / Drift]` | Cerebellar / Proprioceptive |
| **Gait Assessment** | Observe walking pattern, base of support, turns | `[Wide-based / Lurching / Staggering / Titubating]` | | Truncal vs. Hemisphere |
| **Tandem Walking** | Heel-to-toe walking in a straight line | `[Able / Stumbles to Right / Left / Unable]` | | Sensitive for vermis/midline |
| **Romberg's Test** | Feet together, arms by side, eyes open then closed | `[Negative / Positive (Falls only with eyes closed) / Unsteady even with eyes open]` | | Sensory (Positive) vs. Cerebellar (Unsteady eyes open) |

D. Motor System Examination

• Nutrition / Bulk: [Normal muscle bulk, symmetric, no focal wasting or pseudohypertrophy].
• Tone: [Generalized hypotonia / Normal tone / Spasticity / Cogwheel rigidity].
• Power (MRC Grade 0 to 5):
  • Upper limbs (Proximal & Distal): [Grade 5/5 bilaterally]
  • Lower limbs (Proximal & Distal): [Grade 5/5 bilaterally]
• Deep Tendon Reflexes (DTR):
  • Biceps ($C_5-C_6$): [2+ / Pendular / Diminished / Exaggerated]
  • Triceps ($C_7-C_8$): [2+ / Pendular / Diminished / Exaggerated]
  • Supinator ($C_5-C_6$): [2+ / Pendular / Diminished / Exaggerated]
  • Knee ($L_3-L_4$): [2+ / Pendular (dangling oscillations) / Absent / Exaggerated]
  • Ankle ($S_1$): [2+ / Absent / Exaggerated]
• Superficial Reflexes:
  • Abdominal Reflex: [Present in all four quadrants]
  • Plantar Response: [Flexor bilaterally / Extensor bilaterally / Equivocal]

E. Sensory System Examination

• Superficial Sensation: Touch, Pain, Temperature: [Intact bilaterally in all dermatomes].
• Deep / Cortical Sensation:
  • Joint Position Sense (Proprioception): [Intact / Impaired at great toes & fingers]
  • Vibration Sense (128 Hz tuning fork): [Intact / Impaired over malleoli & tibial tuberosity]
  • Stereognosis, Two-point discrimination: [Intact / Not testable]

F. Meningeal Signs, Spine & Cranium

• Neck stiffness / Nuchal rigidity: [Absent / Present]
• Kernig's Sign: [Negative / Positive]
• Brudzinski's Sign (Neck & Contralateral Leg): [Negative / Positive]
• Spine & Cranium: [Normal curvature, no scoliosis, no midline tuft of hair or dermal sinus, no cranial bruit, Macewen sign negative].

8. Other Systemic Examination

• Cardiovascular System: S1, S2 heard; [No murmurs / Systolic ejection murmur / Features of hypertrophic cardiomyopathy (HOCM)].
• Respiratory System: Bilateral vesicular breath sounds, no added sounds.
• Abdomen: Soft, non-tender, [No hepatosplenomegaly / Hepatosplenomegaly present / No palpable retroperitoneal or adrenal mass].

9. Clinical Summary & Spoken Diagnosis