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Levels of Diagnosis. Unique To Neurology. Unique to Neurology. WHAT is observed (this is the syndrome) WHERE in the brain (localize the problem) HOW did that locale in the brain get that way ( “pathophysiology” ). Neurogenetic Disorders. Genetic Disorders Lowering Cognition but IQ “normal”.

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Levels of diagnosis

Levels of Diagnosis

Unique To Neurology


Unique to neurology
Unique to Neurology

  • WHAT is observed (this is the syndrome)

  • WHERE in the brain (localize the problem)

  • HOW did that locale in the brain get that way (“pathophysiology”)



Genetic disorders lowering cognition but iq normal
Genetic Disorders Lowering Cognition but IQ “normal”

  • Neurofibromatosis-1 has multiple impairments but IQ’s above 85-90 prevail

  • Girls with FraX mostly attentionally/perceptually impaired but IQs above 70

  • Girls with Turner Syndrome look like ADHD/dysexecutive and “exaggerated” female disadvantage spatially


A closer look at nf 1
A Closer Look at NF-1

  • 1988 “nonverbal” (spatial) emphasized

  • Motor deficits important and may relate to spatial

  • Language impairments very significant

  • LDs in every skill, reading worse, respond same as “ordinary” RDs do



Mental retardation now called intellectual disability
Mental Retardation (Now Called Intellectual Disability)

  • A condition diagnosed before age 18 that includes below-average general intellectual function, and a lack of the skills necessary for daily living

  • Mental retardation (Intellectual Disability) affects about 1-3% of the population. There are many causes but doctors find a specific reason in only 25% of cases


How is intellectual disability detected
How Is Intellectual Disability Detected?

  • Maybe suspected if the child’s motor skills, language skills, and self-help skills do not seem to be developing, or are developing at a far slower rate than the child’s peers

  • If mild, these failures may not become recognizable until school age or later

  • Degree of impairment varies widely, from profoundly impaired to mild; emphasis is now more on the amount of intervention and care needed for daily life.


Causes of intellectual disability
Causes of Intellectual Disability

  • Infections (present at birth or occurring after birth)

  • Chromosomal abnormalities, e.g. Down Syndrome

  • Environmental Deprivation Syndrome

  • Genetic abnormalities and inherited metabolic disorders


Causes of intellectual disability1
Causes of Intellectual Disability

  • Metabolic, e.g. congenital hypothyroid

  • Nutritional Malnutrition

  • Toxic, e.g. lead poising, alcohol

  • Unexplained (this largest category is for unexplained occurrences of mental retardation)


Symptoms signs of intellectual disability
Symptoms & Signs of Intellectual Disability

  • Continued infant-like behavior (if severe)

  • Decreased learning ability

  • Failure to meet the markers of intellectual development

  • Inability to meet educational demands at school

  • Lack of curiosity (mild retardation may be associated with a lack of curiosity and quiet behavior)


Exams tests intellectual disability diagnosis
Exams & Tests: Intellectual Disability Diagnosis

  • The failure to achieve developmental milestones suggests intellectual disability

  • Abnormal Denver developmental screening test

  • Adaptive behavior score below average

  • Development far below that of peers

  • Intelligence quotient (IQ) score below 70 on a standardized test


Treatment programs for intellectual disability
Treatment Programs for Intellectual Disability

  • The primary goal of treatment is to develop the person’s potential to the fullest

  • Special education and training may begin as early as infancy

  • Social skills to help the person function as normally as possible, equal to academic

  • Important to evaluate the person for other affective disorders (and treat)

  • Behavioral approaches are important for people with mental retardation (applied behavior analysis)


Outlook prognosis for intellectually disabled depends on
Outlook (Prognosis) for Intellectually Disabled Depends on…

  • Opportunities

  • Other conditions

  • Personal motivation

  • Treatment (see above)


Intellectual impairment not always global
Intellectual Impairment Not Always Global on…

  • IQ 60 shared by Downs and Williams Syndromes

  • Downs-verbal worst

  • Williams-verbal best

  • “The perfect grandchild” (Bellugi anecdote)


Sz on…


The childhood epilepsies szs
The Childhood Epilepsies (SZs) on…

  • There is no “child with epilepsy”—heterogeneous

  • Many types, many causes

  • Cognitive associations vary widely

  • One Sz isn’t Epilepsy (e.g. febrile Sz)


Sz types
Sz Types on…

  • Generalized/bilateral onset

  • General with motor (myoclonic, tonic, clonic, atonic, combined)

  • Focal/local onset (temporal lobe, TLE, mostly)

  • Not defined, such as Landau-Kleffner (LKS) and Rasmussen’s


Epileptic encephalopathies
Epileptic Encephalopathies on…

  • West Syndrome (infantile spasms, very abnormal EEG, very low IQ)

  • Lennox-Gastaut (LGS) has many Sz types, low IQ

  • These, exceptionally severe, not the majority


The curious case of lks
The Curious Case of LKS on…

  • LKS called “acquired epileptic aphasia”

  • EEG looks like Sz, in sleep!

  • Maybe no overt Sz

  • MRI - volume temporal regions

  • Receptive before Expressive loss

  • Autistic-like behaviors


Imaging in epilepsies
Imaging in Epilepsies on…

  • TLE-mesial temporal sclerosis

  • Focal cortical dysplasia

  • After many Sz, white matter


Cognitive associations
Cognitive Associations on…

  • Even benign rolandic epilepsy (which is “outgrown”) has LDs with it

  • Statistically, IQ usually normal and no consistent V-P split shows side of Sz

  • Memory deficits with TLE with L verbal, R nonverbal but not 100% lateralized


Executive function attention
Executive Function/Attention on…

  • Frontal lobe directly worst

  • But 35% all Sz have attention, even dx of AD(H)D, inattentive type

  • Disconnect from frontal can cause executive

  • Sz meds may contribute!


Learning disabilities with sz
Learning Disabilities with Sz on…

  • Recent evidence “benign” rolandic type heavily LD-associated

  • Even when Sz well controlled, lots of LD, math > spelling

  • Less so, but poor still, reading

  • TLE of Sz types worst readers (but poor memory globally)


Reasons for ld with sz
Reasons for LD with Sz on…

  • MRI-lower gray matter in left parietal and occipital lobes

  • AED meds decrease attention and processing speed

  • Disruption of white matter after recurring Sz


Psychosocial impact of sz
Psychosocial Impact of Sz on…

  • Teachers underestimate ability and are fearful Sz might occur, afraid to “stress…”

  • Sz make vulnerable to depression modified by environment

  • Neurochemical (excite vs inhibit) imbalances may be shared by Sz and depression


Cerebral palsy

Cerebral Palsy on…

Cerebral palsy: a group of disorders that can involve brain and nervous system functions such as movement, learning, hearing, seeing, and thinking.

There are several different types of cerebral palsy, including spastic, dyskinetic, ataxic, hypotonic, and mixed.


Causes of cerebral palsy
Causes of Cerebral Palsy on…

  • Cerebral palsy is caused by injuries or abnormalities of the brain

  • Most occur as the baby grows in the womb

  • Can happen at any time during the first 2 years of life, while the baby’s brain is still developing


Causes of cerebral palsy ii
Causes of Cerebral Palsy (II) on…

  • Premature infants at slightly higher risk of developing cerebral palsy

  • Cerebral palsy may also occur during early infancy as a result of:

    • Bleeding in the brain

    • Brain infections (encephalitis, meningitis, herpes simplex infections)

    • Head injury

    • Infections in the mother during pregnancy (rubella)

    • Severe jaundice


Symptoms of cerebral palsy
Symptoms of Cerebral Palsy on…

Symptoms of cerebral palsy vary so that may be:

  • Very mild or very severe

  • Only involve one side of the body or both sides

  • More pronounced in either the arms or legs, or involve both the arms and legs


Symptoms of spastic cerebral palsy the most common type
Symptoms of Spastic Cerebral Palsy, the Most Common Type on…

  • Muscles that are very tight and do not stretch. They may tighten up even more over time

  • Abnormal walk (gait): arms tucked in toward the sides, knees crossed or touching, legs make “scisors” movements, walk on the toes

  • Joints are tight and do not open up all the way (called joint contracture)

  • Muscle weakness or loss of movement in a group of muscles (paralysis)

  • The symptoms may affect one arm or leg, one side of the body, both legs, or both arms and legs


Symptoms in other types of cerebral palsy
Symptoms in Other Types of Cerebral Palsy on…

  • Abnormal movements (twisting, jerking, or writhing) of the hands, feet, arms, or legs while awake, which gets worse during periods of stress

  • Tremors

  • Unsteady gait

  • Loss of coordination

  • Floppy muscles, especially at rest, and joints that move around too much


Other brain and nervous system symptoms
Other Brain and Nervous System Symptoms on…

  • Intelligence may be normal: don’t judge a book by its cover!

  • Decreased intelligence or learning disabilities are common, but intelligence can be normal

  • Speech problems (dysarthria)

  • Hearing or vision problems

  • Seizures

  • Pain, especially in adults (can be difficult to manage)


Treatment requires a team approach
Treatment Requires A Team Approach on…

  • Primary care doctor

  • Dentist (dental check-ups are recommended around every 6 months)

  • Social worker

  • Nurses

  • Occupational, physical, and speech therapists

  • Other specialists, including a neurologist, rehabilitation physician, pulmonologist, and gastroenteroligist

  • Treatment is based on the person’s symptoms and the need to prevent complications


Therapeutic program
Therapeutic Program on…

  • Putting the child in regular schools is recommended, unless physical disabilities or mental development makes this impossible. Special education or schooling may help.

  • Physical therapy, occupational therapy, orthopedic help, or other treatments may also be needed to help with daily activities and care.


Developmental motor coordination disorder dmcd
Developmental Motor Coordination Disorder (DMCD) on…

  • DSM-IV Diagnosis in “315” group with LD

  • Essentially discrepancy between chronological age and motor age

  • MABC has scores but rarely used

  • PANESS mostly research


Clinical correlates of dmcd
Clinical Correlates of DMCD on…

  • 50% of ADHD

  • 30-50% of LD

  • Some unknown % SLI

  • Some unknown % ASD


Dmcd cp line
DMCD/CP “Line” on…

  • Tone (spastic) is clearest distinction

  • Low tone (hypotonia) is overlap

  • Ataxic CP overlap

  • Physical therapy need is practical “cut-off” for CP


What s that fancy word apraxia
What’s That “Fancy” Word, “Apraxia” on…

  • Praxis is root of “practice” and “practical”

  • Praxis refers to learned motor skill

  • Tool use is big part of it

  • Some gestures are praxis

  • Unclear whether praxis sits within or on top of DMCD


Does dmcd have school impact
Does DMCD Have School Impact? on…

  • Yes, but underestimated

  • “Outgrown” but lots of school years impeded

  • Early writing is “killing with kindness”

  • “Correcting” pencil grasp is wasting time

  • Scale up, then down


Does dmcd have social impact
Does DMCD Have Social Impact? on…

  • Yes, both for boys and girls (boys in past)

  • Choosing a sport for success & social benefit

  • Balance component

  • Spatial component

  • Speed component


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