Abnormal Development PDF

# Abnormal Development ## Developmental Domains - Cerebral Palsy - 2 - Language Delay - 3 - Autism Spectrum Disorders - 7 ## Developmental Domains - **Delay in a single domain:** (ie, isolated developmental delay (e.g., speech and language)) - **Delay in more that one domain:** A significant de...

# Abnormal Development ## Developmental Domains - Cerebral Palsy - 2 - Language Delay - 3 - Autism Spectrum Disorders - 7 ## Developmental Domains - **Delay in a single domain:** (ie, isolated developmental delay (e.g., speech and language)) - **Delay in more that one domain:** A significant delay in two or more developmental domains affecting children under the age of five years is termed global developmental delay (GDD). ### How do I identify developmental delay? 1. During routine developmental surveillance or screening 2. Following parental concern 3. Preschool teachers or nursery care. ### The warning signs of physical developmental delay: | Age | Red Flags | | :------- | :---------------------------------------------------------------------- | | Birth | Floppy baby | | 6 weeks | Unresponsive to sound or visual stimuli | | 3 months | Lack of social response or vocalization | | 4 months | Poor head control, not reaching for objects, no babbling | | 9 months | Unable to sit without support, does not transfer objects | | 12 months | Unable to stand with support, not using social gestures, such as pointing, waving | | 18 months | Not walking independently, no meaningful single words | | 2 years | Unable to walk up stairs with help, no spontaneous two-word phrases | | 3 years | Unable to run or jump up, no two-to-three word phrases, engages in solitary play | | 4 years | Unable to hop on one leg; cannot follow two-to-three step command; no color recognition | | 5 years | Unable to give narratives, no interactive play; no alphabet or number recognition | ## Causes of Developmental Delay ### Prenatal - Genetics - Vascular - Cerebral dysgenesis - Toxins - Early maternal infections ### Perinatal - Prematurity - Perinatal asphyxia ### Postnatal - Infections - Anoxia - Trauma - Vascular ### Others - Social - Maternal mental health disorder ## Cerebral Palsy **Definition:** A group of non-progressive, but often changing, motor deficit secondary to a non-progressive injury to the developing brain which may arise either before or after birth. ### Etiological Classification | Category | Issues | | :--------- | :---------------------------------------------------------------------- | | Prenatal | ✓ Cerebral Malformations ✓ Congenital infections (TORCH infections) ✓ Severe intrauterine fetal anoxia | | Perinatal | ✓ Perinatal asphyxia ✓ Intracranial hemorrhage ✓ Prematurity ✓ Low birthweight infants | | Postnatal | ✓ Meningitis ✓ Intracranial hemorrhage ✓ Cerebrovascular accidents ✓ Kernicterus | ### Clinical Classification - **Spastic or hypertonic cerebral palsy** - **Caused by:** Damage to the cerebral motor cortex involving motor or area 4 and premotor area 6 (injury to the upper motor neurons of the pyramidal tract) - **Examination of motor system and reflexes reveals:** 1. State: wasting due to disuse atrophy. 2. Power: paresis (unilateral "hemiplegia"//bilateral "paraplegia, quadriplegia or diplegia"). 3. Tone: spasticity: clasp knife affecting antigravity muscles. 4. In the upper limbs: biceps, pronators flexed arm and forearm with fisting of the hands. 5. In the lower limbs: adductors and hamstrings (extension and scissoring), calf muscles ankle clonus 6. Reflexes: deep reflexes are exaggerated and planter reflex is positive. - **Dyskinetic (Dystonic or Athetoid) cerebral palsy:** - **Caused by:** Damage to the basal ganglia or their associated pathways (extrapyramidal). - It is dominated by abnormal patterns of movement and involuntary, uncontrolled, recurring movements. ## Examination reveals irregular involuntary stereotyped movements of some or all muscle groups that may be either: 1. Athetosis: it is purposeless snake like distal movement. 2. Dystonia (simultaneous contraction of the agonist and antagonist muscles involving the trunk and or proximal limbs). - **Ataxic cerebral palsy** - **Caused by:** Damage to the cerebellum, which is responsible for coordinating physical movement. - Patients often experience intention tremors and reduced muscle tone (hypotonia), and loss of orderly muscle coordination. - **Atonic cerebral palsy (cerebral infantile hypotonia)** - Low muscle tone that causes loss of strength and firmness, resulting in floppy infant. Deep reflexes are preserved and even exaggerated. ### Functional Classification | Category | Description | | :-------- | :------------------------------------------------------------------------------------------------------------- | | Mild | Mild limitation of motor activity, so the child is fully ambulant and capable to care of himself. | | Moderate | Moderate limitation of motor activity, so the child can only walk with walking aids and capable also to care for himself. | | Severe | Great limitation of motor activity, totally confined to bed or wheelchair with total or almost total dependence on others for daily life, | ### Clinical diagnosis 1. Motor delay 2. Microcephaly 3. Primitive reflexes persistence 4. Absence of postural reactions 5. Abnormal limb or trunk posture e.g. stiffness when handled 6. Feeding difficulties: slow feeding and gagging (pseudobulbar) 7. Jitterness or easily startled + excessive irritability 8. Floppy infant at birth or early infancy 9. Persistent fisting of the hand ## Established features of cerebral palsy 1. Delayed gross and fine motor development 2. Classic pattern of CP e.g. spastic, ataxic, atonic... Established after 4 years of age ## Diagnosis should include the following 1. Etiology of cerebral palsy e.g. post-hypoxic cerebral palsy. 2. Type of cerebral palsy eg. spastic, dyskinetic, ataxic, mixed and cerebral hypotonia. 3. Associated findings e.g. motor (wasting), cranial nerves (bulbar) and microcephaly. 4. Associated deficits e.g. mental retardation, epilepsy and deafness. 5. Degree of functional disability ## Complications, associations and investigations ### Complications - Impairments that may arise due to long-standing motor problem - Include: Muscle wasting with joint deformities and dislocations e.g. hip dislocation & scoliosis, feeding difficulty, recurrent aspiration and chest infection, speech difficulty, sphincter disturbances as constipation. ### Associations - Impairments that may arise due to brain insults affecting other areas. - Include: mental retardation, epilepsy, squint, deafness, language impairment and psychological problems as emotional instability, Autistic SD, anxiety and sleep disorders ### Investigations - **CT or better MRI** - May determine the location and extent of structural brain lesion. - **Blood tests** 1. TORCH screening (to exclude congenital infections). 2. Metabolic profiling (as ammonia, lactate, Tandem mass spectrometry (TMS), to exclude possible neuro-metabolic disorders). 3. Genetic testing (as karyotyping to exclude suspected genetic causes). - **Auditory assessment** - Auditory Brainstem Response (ABR) and visual evoked potential (VEP). - **IQ** - Identify Intellectual Deficit and learning problems. - **Speech and language assessment** - Detect speech and language problems - **TREATMENT** 1. Rehabilitation 2. Management of complications and associations. 3. Spasticity management also may include oral medication ## Case Scenario - A 3-year-old child presents with inability to walk ### Developmental History - Child started sitting at 18 months of age. He has not started walking. - He is able to move forward in a sitting position with help of his arms. - He recognizes his parents and has started speaking few words. ### Birth History - He was born at a clinic after a term pregnancy. - He had delayed cry after birth, and remained in hospital for few days. - There is history of seizures in first week of life, and later during febrile illnesses ### On examination - Head circumference is 46 cm (< 3rd centile). - Internal squint is seen in eyes. - There is drooling of saliva from the mouth. - Motor system examination shows hypertonia and hyperreflexia. - He stands with support on his toes with legs crossed. - He can take a few steps sideways holding on to furniture. ## LANGUAGE DELAYS ### Red flags of language development necessitating referral include: - No babbling, no pointing, no gestures by 12 months of age. - No single words by 16 months of age. - No non-echolalic two-word sentences by 24 months of age. - A loss of language or social skills at any age. - A rule of thumb for atypical verbal or auditory language milestones is that one ought to refer a child who, at 2 years of age, has a vocabulary of fewer than 50 words and creates no two-word sentences. ## CASE SCENARIO - Karam, a 3 y.o. boy, brought by his mother to seek advice regarding his speech delay. - She was concerned because his preschool teachers had told her that he seemed to be slow in speech compared to his classmates. - He had a vocabulary of about 10-12 words and had not started speaking in phrases. - He could respond to his name and followed simple instructions well. - On examination, he had no dysmorphic facial features and was in good health. - He had attained all other developmental milestones appropriate to his age except for expressive language. - You obtained more relevant history from Karam's mother. She said he was full term and had an uneventful neonatal period. - Neonatal screening test was normal. Never hospitalized or exposed to any ototoxic agents, and had no history of any significant infections such as meningitis. - You explained that Karam's expressive language seemed to be delayed. ## Autism Spectrum disorder (ASD) - A spectrum of biologically based neurodevelopmental disorders of varying severity, characterized by impairments in two major domains: 1. Deficits in social communication and social interaction 2. Restricted repetitive patterns of behavior, interests, and activities. ### Onset - Infancy and preschool years, usually before 3 years of age. - Men are common more affected than females. ### Symptoms - Children prefer solitary play - Socially withdrawn - Struggle to understand nonverbal communication (eg, eye contact, facial expressions) - Do not interact with people as significantly different from objects. - Communication and speech are often delayed. ### Etiology - Genetics + environmental + abnormal brain structures ### Diagnostic criteria - Deficit in social communication and interaction - Restricted, repetitive patterns of behavior or interests. - Language impairment is NOT included in the diagnostic criteria ## Early red flags for ASD - No pointing at objects to show interest (proto-imperative pointing) by 12 months (most characteristic feature) - No babbling by 9 months - No response to his/her name by 12 months - No single word by 16 months - No play "pretend" games by 18 months - No 2-word sentences by 24 months - Any loss of social skills at any age ## Specific Screening for Autism ### Age for Screening - All children should be screened for autism specific screening at 18 and 24 months of age. ### Different screening tools have been developed - **Modified Checklist for Autism in Toddlers (M-CHAT)** - Identify children 16-30 months of age who should receive a more thorough assessment for possible early signs of ASD or developmental delay. #### M-chat | Category | Description | | :---------- | :-------------------------------------------------------------------------------------------------------------------------- | | **NOT DIAGNOSTIC** | ✓ Assess the risk of ASD ✓ Used by health care providers and specialists ✓ 23 parent report items ✓ Can be scored quickly (less than 2 minutes) | | **M-chat interpretation** | ✓ Total score <3: no follow up ✓ Total score 3-6: low risk for follow up and if persistent >3 refer for evaluation ✓ Total score 7-23: high risk, refer immediately | ## Treatment | Category | Description | | :------------------------- | :------------------------------------------------------------------------------------------------------------------------------------------------------ | | **Psychosocial intervention** | ✓ Main line of treatment ✓ Behavioral therapy ✓ Speech therapy ✓ Parent training ✓ Diet modification | | **Pharmacological intervention** | FDA approved antipsychotics |