Contents Normal Development: Definition, Milestones Developmental Delay: Definition, Criteria Anatomical and Pathological Aspects & Differential Diagnosis Approach to A Child with Mental/Motor Developmental Delay: * History * Physical Examination * Investigations
Definition of Development It is a continuous process from conception to maturity Depends on the interaction between the child (genetic factors) and the environment (acquired factors) Assessed as Milestones.
Introduction to Developmental Delay Generally, developmental delay is a term used to describe a child who does not reach developmental milestones at the expected age, even after allowing for the broad variation of normality. A classification scheme for neurodevelopment disabilities is provided in the next table. An estimated 5 to 10% of the pediatric population has a developmental disability.
DescriptionDisability Significant delay in fine or gross motor skills with no impairment in other developmental areas Gross motor delay Significant delay in receptive and/or expressive language skills with no delay in other developmental domains Developmental language disorders (specific language disorders) Significant delay in two or more developmental streams as measured by appropriate standardized screening tests;. This term reserved for children<5 yr of age Global developmental delay Early-onset non-progressive motor impairment with associated abnormalities in muscle tone Cerebral palsy Primary sensory impairments Visual impairment: an optically or medically diagnosable condition in the eye(s) or visual system that affects the development and normal use of vision, ranging from slight to complete blindness Visual Hearing impairments: a reduction in the ability to hear sound, ranging from slight to complete deafness Hearing School related ADHD: a persistent pattern of inattention and/or hyperactivity that is expressed with higher frequency and severity than normally found in the population ADHD Learning disabilities: significantly lowered individual achievement than normal as measured by standardized tests assessing reading, mathematics, or written expression Learning disabilities Autistic spectrum disorders PDD: impairments in social or communication skills or restrictive/repetitive patterns of behavior Pervasive developmental delay (PDD) Pervasive developmental disorders not otherwise specified: similar to PDD but not enough symptoms to warrant a PDD diagnosis Pervasive developmental disorders not otherwise specified
When can we say this child has a delayed development?
Mental Function Measured with the IQ “Intelligence Quotient”
Motor Function Denver Developmental Screening Test II
CLINICAL PICTURE Any perinatal insult: toxins, infection, radiation, undernutrition, maternal illness, hypoxia Instrumental/complicated delivery Neonatal seizures, respiratory distress, hyperbilirubinemia, metabolic disorder, head trauma Brain Surgery/Shunts Loss of previously acquired milestones
Abnormal facies and stature (any signs consistent with a syndrome) Ht, Wt, and Head Circumference Abnormality in organs (CHD, Hepatomegaly, Genitalia, skin) Abnormal neurlogic exam. Shunts Sign of increased ICP
INVX CBC with Differential TORCH antigens/antibodies by ELISA, PCR CSF analysis and culture EEG Karyotyping Brain CT / MRI Metabolic screen
-Both genetic and enviromental factors such as nutrition -having a child with spina bifida increase the risk of occurance in next child by 8 times -patients with spina bifida are usually asymptomatic -meningocele and myelomeningocele are evident at birth other than obvious spinal cord deformity symptoms are caused by the complications of spina bifida even after correction
Usually they are identified by examination and x-ray findings by PE : Over the lumber region of the back there may be an overlying skin lesion as : -Tuft of hair -lipoma -birth mark -small dermal sinus The underlying lesions identified by us and MRI
By examinations : - paralysis of the legs -dislocation of hips and talipes -scoliosis -neuropathic bladder and bowel -hydrocephalus from the Arnold-Chiari Malformation
-Blood test during pregnancy by Triplet test and confirmed by aminocentesis -Evaluation of the fluid that surrounds the brain and spinal cord UltrasoundUltrasound- Urinary tract evaluation, including a urinalysis- -X-ray of spine,hips, legs and skull. MRI- Invx
Clinical Picture Begin between 6 m to 6 y Progressive proximal weakness Decrease spontaneous movements Floppiness Atrophy Loss of head control With time : legs stop moving all together Play Mental, social, language, sensations are all normal
Face : decrease facial expressions, increase drooling and gargling Eyes: bright, open, mobile Neurological examination: Flaccid weakness Early loss of reflexes Rapid, shallow, predominantly abdominal breathing
INVX Mild increase in ALP EMG MUSCLE BIOPSY DIAGNOSIS IS MADE BY DNA PROBE FOR SMA
Poliomylitis: Abs Isolation of the virus CSF: increase cells, mainly lymphocytes,proteins early 30- 60mg… late may rise to 100-600mg, normal sugar
CLINICAL PIC. Fluctuating weakness of voluntary muscles, particularly the cranial nerves double vision, dysphagia and ptosis. * Proximal muscles are affected difficulty with combing hair, getting up from a chair ………….etc. * Onset: usually subacute, but acute onset (with respiratory failure) does occur.
Common presentations include: i)involvement of facial and bulbar muscles and proximal weakness; ii)diplopia and ptosis alone(ocular myasthenia); iii)complaints of fluctuating weakness, particularly of proximal muscles; iv)patients may present in respiratory failure, particularly if there has been an associated infection or physical stress.
Signs are of motor weakness: ptosis, ocular palsies, gaze palsies, facial and jaw weakness, bulbar palsy.Myasthenia classically has fatigueability of muscle strength: eg on repeated muscle contraction strength becomes less and less. This is best examined in the most affected muscles: if there is ocular weakness, ask the patient to look upwards and observe to see if ptosis develops; if there is proximal weakness test repeated shoulder abduction. Note that reflexes are normal, there is no muscle wasting or fasciculations and sensory examination is normal.
INVX i)Tensilon Test (Edrophonium) ii)Anti-acetylcholine receptor antibodies: the most sensitive test iii)Electrophysiology: repetitive stimulation:this is the electrical equivalent of testing for fatigueability: repeated shocks are given and if myasthenia is present, there may be a decline in the amplitude of the muscle response. iv)CT scan of the thorax: may show a thymoma.
C/P 1. combination of motor, sensory and sometimes autonomic deficits 2. Motor symptoms: hypotonia, weakness and atrophy more distal than proximal; some time with fasiculation 3. Sensory - most neuropathies present with slowly progressing, symmetrical sensory loss, often "stocking/glove" distribution 4. Loss of deep tendon reflexes 5. Autonomic - postural hypotension, weak bowel and bladder sphincters, impotence, unreactive pupils
Peripheral Nerves causes electromyography (EMG): An action potential amplitude that is twice normal An increase in duration of the action potential A decrease in the number of motor units in the muscle Nerve conduction velocity (NCV) ==> slow
nerve, skin, or muscle biopsy may be performed to confirm the diagnosis. ==> microscopic evaluation and chemical analysis blood and urine tests imaging tests (e.g., CT scan, MRI scan) Lumbar puncture: ↑ CSF protein is diagnostic for Guillain-Barre syndrome Genatic marking as SMN gene test for spinal muscle atrophy
CLINICAL PIC. Skeletal muscle weakness is the hallmark of most myopathies, primarily in the muscles of the shoulders, upper arms, thighs, and pelvis (proximal muscles). the distal muscles of the hands and feet may be involved during the advanced stage of disease. -Aching -Cramping -Pain -Stiffness -Tenderness -Tightness
Family History * Risk factors for other myopathies include the following: -Autoimmune disorders (e.g., myasthenia gravis, scleroderma, thyroiditis)myasthenia gravis -Endocrine disorders (e.g., Cushing syndrome, hypothyroidism, hyperthyroidism, Addison disease) -Infection (e.g., HIV, Lyme disease, trichinosis)HIV -Vitamin D deficiency, vitamin E or A toxicity -Metabolic disorder (e.g., glycogen and lipid storage diseases)
If heart (cardiac) muscle is affected in later stages of disease, abnormal heart rhythms or weakness of the heart muscle (cardiomyopathy) may develop. A patient with cardiomyopathy is at risk for congestive heart failure. -When the muscles involved in breathing weaken, there may be significant breathing difficulties and increased risk for pneumonia, flu, and other respiratory infections. In severe cases, patients may require a machine that assists breathing (respirator). When swallowiIf heart (cardiac) muscle is affected in later stages of disease, abnormal heart rhythms or weakness of the heart muscle (cardiomyopathy) may develop. A patient with cardiomyopathy is at risk for congestive heart failure.
Clinical and Neurological Evaluation Some of the early symptoms associated with myopathies include muscle weakness, muscle pain or tenderness, muscle pain during exercise, and muscle fatigue. Some may fall a lot, have trouble walking, or may experience difficulty getting out of a chair. Various signs and symptoms the physician looks for include the following: -Endocrine abnormalities -Heart problems -Mental dysfunction Muscle weakness that occurs in any particular pattern -Muscular shrinkage (atrophy) -Skin rash The neurological exam involves testing the following: -Ability to rise from sitting -Ability to walk -Coordination -Deep tendon reflexes (the knee jerk reaction)
INVX Blood Tests 1- CK, LDH, PK. 2-hormone excesses or deficiencies. 3-Antibodies found in the blood might indicate an inflammatory myopathy. * Electromyogram * Muscle Tissue Biopsy A muscle biopsy involves surgically removing a very small amount of tissue to be examined under the microscope and analyzed for cellular and protein abnormalities * Muscle MRI