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‫الفرقان‬ ‫سورة‬:174
Dr: Samir MM Al-Minshawy
Lecturer of Neuropediatrics
Minia University
 Mental disorders have been recognised in Egypt for
millennia; 5000 years ago and described in the Ebers
and Kahun papyri. These disorders carried no stigma,
as there was no demarcation then between psyche and
soma.
 In the 14th century – 600 years before similar
institutions were founded in Europe – the first
psychiatric unit was established, in Kalaoon Hospital
in Cairo.
History
Listening to the story :
The earliest reference to MR dates to the Egyptian Papyrus of
Thebes in 1552 B.C. (Harris 2006).
The ancient Greeks and Romans believe that children with ID
were born because the gods were angry. Infanticide (thrown from a
cliff ) or sale in Sparta (Sheerenberger, 1983)
In middle ages, many children were sold into slavery, abandoned,
or left out in the cold.
• Johann G- established the first known residential facility in 1841
in SwitzerlandIn 1905, Alfred Binet produced the first
standardized test for measuring intelligence in children.
.The Mental Deficiency Act of 1913 made marriage illegal for
persons with mental retardation.(Eugenics)
“The 1950's was an era of compulsory surgical sterilization (NRCFCPP
Information Packet: Parents with Mental Retardation and their Children: 2003).
Declaration on the rights of mentally retarded persons in 1977
 The mentally retarded person has the same rights as other human
beings.
 He has a right to a proper medical care
 He has a right to economic security and to a decent standard of
living and to perform productive work.
 He should live with his own family or with foster parents and
participate in different forms of community life. The family with
which he lives should receive assistance.
 He has a right to a qualified guardian when this is required to
protect his personal well-being and interests.
 He has a right to protection from exploitation, abuse and
degrading treatment.
 Whenever he is unable, because of the severity of their handicap, to
exercise all their rights in a meaningful way or it should become
necessary to restrict or deny some or all of these rights, the
procedure used for that restriction or denial of rights must contain
proper legal safeguards against every form of abuse.
Definition
A group of disorders
Mental retardation is stigmatizing .
Intellectual disability.
In Europe, learning disability
Global developmental delay
Diagnostic and Statistical Manual of Mental Disorders, fourth Edition
 Intelligence quotient:

 It is calculated according to the formula
 Grading of intellectual disability:
 Mild intellectual disability: IQ 50-55 to 70
 Moderate intellectual disability IQ 35-40 to 50-55
 Severe intellectual disability IQ 20-25 to 35-40
 Profound intellectual disability IQ below 20-25
 Intellectual disability, Severity unspecified, when there is strong presumption
of intellectual disability but the person’s intelligence is untestable by standard
tests.
Developmental periods is defined as the period of time
between conception & the 18th birthday.
Adaptive behavior is defined as the degrees with which
the person meets the standards of personal independence
& social responsibility expected of his age & cultural
group.
1- Genetic factors:
 Metabolic and/or neurodegenerative disorder: PKU, Tay-Sachs
 Chromosomal disorder: Down syndrome, Klinefelter syndrome
 Genetic syndromes: Fragile X and Prader-Willi syndrome
 Nonsyndromic autosomal mutations: SYNGAP1, GRIK2, TUSC3
 Developmental brain abnormality: Hydrocephalus ±
meningomyelocele, lissencephaly
Etiology (Cause versus Risk factor)
2-Prenatal causes:
Infection
 Rubella
 Cytomegalovirus
 Syphilis
 Toxoplasmosis, herpes
simplex
Endocrine
disorders
 Hypothyroidism
 Hypoparathyrodism —
 Diabetes mellitus
Intoxication
Physical damage &
disorders
 Injury
 Hypoxia
 Radiation
 Hypertension
 Anemia
 Emphysema
Placental dysfunction
 Toxemia of pregnancy
 Placenta previa
 Cord prolapse
 Nutrition growth retardation
3- Perinatal Factors
 Birth asphyxia
 Prolonged or difficult birth
 Prematurity
 Kernicterus
 Instrumental delivery
4- Postnatal Factors
 Infections
i. Encephalitis
ii. Measles
iii. Meningitis
iv. Septicemia
 Accidents
 Lead poisoning
5- Environmental &
socio-cultural
Factors
 Cultural deprivation
 Low socio-economic
status
 Inadequate caretakers
 Child abuse
6- Familial
intellectual
disability: Environment,
syndromic, or genetic
7- Unknown
Epidemiology
 15% worldwide have physical or mental disability
 http://www.cbsnews.com/news/15
 According to DSM-IV-TR, 2.5% of the population have ID
 ID occurs more in boys than in girls: 2 : 1 in mild intellectual
disability and 1.5 : 1 in severe intellectual disability (X-linked
disorders.
‫كلمة‬ ‫التستخدم‬ ‫فضلك‬ ‫من‬(‫متخلفة‬)
‫طفلة‬ ‫أنا‬‫جميلة‬
 Egypt has a national census every 10 years since 1907
 Egypt: overall prevalence of 3.9%(Assiut Governorate,
representing the Egyptian population). Temtamy et al
1994
 Percent distribution of Disabled Persons by Type
of Disability in 1996
Diagnosis
Diagnosis
 History taking from parents & caretakers
 Physical examination
 Neurological examination
 Developmental assessment
 Psychological assessment
 Investigations:
 Laboratory studies
 Imaging studies
 Electrophysiologic studies
 Histologic Findings
 Psychological tests
History taking:
Signs and symptoms
Patients may demonstrate the following:
 Language delay.
 Fine motor/adaptive delay: self-feeding, and dressing,,,
 Cognitive delay: memory, problem-solving, and logical
reasoning
 Social delays: Lack of interest in age-appropriate toys and
delays in imaginative play and reciprocal play with age-
matched peers
 Gross motor developmental delay
 Behavioral disturbances: hyperactivity, disordered sleep,
aggression, self-injury,.
 Neurologic and physical abnormalities.
Extensive Family history (a pedigree of 3 generations or
more)
Developmental assessment
 At regular intervals.
 Parents' Evaluation of Developmental Status (PEDS), Ages
and Stages Questionnaires (ASQ) and Child Development
Inventories (CDI). Bayley Infant Neurodevelopmental
Screener, Battelle Developmental Inventory and Early
Language Milestone Scale.
Behavioral observations should focus on the child's
communicative intent, social skills, eye contact, compliance,
attention span, impulsivity, and style of play.
Physical examination
 Head circumference
 Height and weight
 Neurological exam
 Visual impairment and hearing deficits
 Skin: Extremities
Laboratory studies ( according to….)
1-Genetic study
 karyotyping
 Fragile X testing
 FISH probes
2-Metabolic screening:
 Urinary organic acids (organic acidopathies)
 Urinary mucopolysaccharides and oligosaccharides
(mucopolysaccharidoses)
 Plasma 7-DHC (Smith-Lemli-Opitz syndrome)
 Thyroid function tests
 Very-long-chain fatty acids (peroxisomal disorders)
 Creatine kinase (in the assessment of profound central hypotonia
versus myopathy)
3-lead testing
Imaging studies
 Brain CT and MRI
 Skeletal films
Electrophysiologic studies
 Auditory evoked potentials
 Visual evoked potentials
 EEG is not recommended as part of the routine work-up of
MR unless the history is suggestive of seizures or a specific
epileptic syndrome
Histologic Findings
 Dendritic spines number, maturity and morphology.
Psychological tests
 Bayley Scales of Infant Development
 Stanford-Binet Intelligence Scale
 Wechsler Preschool and Primary Scale of Intelligence-Revised
(WPPSI-R)
 Wechsler Intelligence Scale for Children–IV (WISC-IV)
 Vineland Adaptive Behavior Scales-II
Dr Hussein Abdeldayem
Prof of Pediatric Neurology, Alex University
False MR (PSEUDO MR)
Dual Diagnosis
Management
Aim: Early recognition and intervention
Dimensions:
1- Prevention
2- Treatment: improvement over time but rarely “cured”.
Early and accurate intervention
Rehabilitation
Dealing with comorbidities
Prevent further complications and deterioration
3- follow- up
Prevention
- More important and of low cost
-
- Levels:
- Primary: prevent the occurrence of the disease (immunization , genetic counseling.
etc.. Prevent
- Secondary Prevention (early detection (prenatal diagnosis and newborn screening)
Stop or reverse
- Tertiary: Prevent complications
- Quaternary : (set of health activities that diminish or avoid the consequences
of unnecessary or excessive interventions in the health system) less cost
 Examples:
 PKU, Congenital hypothyroidism, Galactosemia, Congenital rubella syndrome ,
Fetal Alcohol syndrome, Maternal diseases and infection , Perinatal asphyxia. Iron
and iodine deficiency etc,,,,,,,,,,,,,,,,,,,,,,,,
 Developmental screening tests : Infants at high risk
Treatment?
KEY COMPONENTS OF SUCCESSFUL TREATMENT
PROGRAMS
 Time Factor
 Team Approach
 Individualized (patient) Planning
 Family involvement
 Cultural Considerations
 Community commitment
 Peer Interaction
 Developmental pediatrician or psychologist
 Genetic specialist and counselor
 Psychiatrist
 Dentist
 Special education/educational therapist
 Occupational, speech and/or physical therapist
 Behaviorist
 Pharmacist
 Durable medical equipment providers
 Social services agencies/social workers
 Treatments
Developmental and Educational Services:
 Special education programs: An Individualized Education Program (IEP)
Behavioral Techniques as family therapy, individual child behavior therapy, cognitive–
behavioural therapy, psychodynamic therapies, parent training, and group therapy:
preventative and therapeutic for children and parents.
Pharmacological Treatment :
 Improvement not cure
 Psychopharmacological Intervention: Medications are targeted to specific comorbid
psychiatric disease or behavioral disturbances like psychostimulants for ADHD and
neuroleptic for aggression and self-injury.
 No specific pharmacologic treatment is available for cognitive deficiency. Although the
pharmacologic enhancement of cognition is an area of interest, research on it is limited.
Diet: Dietary restrictions (such as yeast and gluten-free regimens) vitamin and mineral
supplements is generally not supported by research).
Activity: Obesity is prevalent , regular physical activity should be included in the
management plan. participation in peer activities, sports gain self-esteem .
Encourgement of evidence based medicine and minimize the gap between research and
practice
Smart drugs “Nootropics"Intelligence enhancers, are drugs, supplements, nutraceuticals, and
functional foods that improve one or more aspects of mental function,
such as working memory, motivation, and attention. Intense marketing
may not correlate with efficacy; while scientific studies support the
beneficial effects of some compounds
Rationale of use: poorly understood mechanisms of action, not be as a
substitute for appropriate services and possibly dangerous side effecs may
be present
I
ncluding:
 Stimulants : Amphetamine, methylphenidate, caffeine, nicotine,
armodafinil and modafinil
 Omega-3 fatty acids
 Nutraceuticals: Bacopa monnieri, panax ginseng.salvia officinalis.
ginkgo biloba and soflavones
 Racetams: pramiracetam, oxiracetam, coluracetam, and aniracetam
Follow up
Outpatient Care
Regular evaluation at least annually:
 Treatment of associated impairments
 Pharmacotherapy
 Behavior management
 Educational services
 Family counseling
 Health Education
 Family support and education around the issues of MR
can be obtained from the following:
 The Arc
 American Association on Intellectual and
Developmental Disabilities
 Exceptional Parent Magazine
 National Organization for Rare Disorders (NORD)
 Brain and Nervous System Center.
Abuse
Physical
Sexual
Psychological
Financial
Peer abuse
Prognosis
 Mild to moderate mental retardation has
good prognosis.
 severe to profound ID has a decreased life
expectancy.
 Comorbid psychiatric and physical
conditions
 Down syndrome may prdispose to
Alzheimer's disease in later life
Pascal Duquenne won the Best Actor Award at the 1996 Cannes
Film Festival for his role in The Eight Day.
Special Olympian, swimmer and president of the disability rights
organization the Karen Gaffney Foundation. She is the first living
person with Down syndrome to receive an honorary doctorate
degree.
DISABILITY: IN THE BRAIN,
IN THE PUBLIC MIND
Skills
Raise the suspicion
Detect early
Mimickers and dual diagnosis
Team bonding
Discover patient characteristics
Communicate effectively: patient, family and others
Respect and sympathy
By Dr: Samir MM Al-Minshawy
Lecturer of Neuropediatrics
Minia University
2nd Scientific Day including EEG
Workshop: 17 Sept 2015
Surat Al-Furqan Verse 174: The Story of Listening

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Surat Al-Furqan Verse 174: The Story of Listening

  • 2. Dr: Samir MM Al-Minshawy Lecturer of Neuropediatrics Minia University
  • 3.  Mental disorders have been recognised in Egypt for millennia; 5000 years ago and described in the Ebers and Kahun papyri. These disorders carried no stigma, as there was no demarcation then between psyche and soma.  In the 14th century – 600 years before similar institutions were founded in Europe – the first psychiatric unit was established, in Kalaoon Hospital in Cairo. History
  • 4. Listening to the story : The earliest reference to MR dates to the Egyptian Papyrus of Thebes in 1552 B.C. (Harris 2006). The ancient Greeks and Romans believe that children with ID were born because the gods were angry. Infanticide (thrown from a cliff ) or sale in Sparta (Sheerenberger, 1983) In middle ages, many children were sold into slavery, abandoned, or left out in the cold. • Johann G- established the first known residential facility in 1841 in SwitzerlandIn 1905, Alfred Binet produced the first standardized test for measuring intelligence in children. .The Mental Deficiency Act of 1913 made marriage illegal for persons with mental retardation.(Eugenics) “The 1950's was an era of compulsory surgical sterilization (NRCFCPP Information Packet: Parents with Mental Retardation and their Children: 2003). Declaration on the rights of mentally retarded persons in 1977
  • 5.
  • 6.  The mentally retarded person has the same rights as other human beings.  He has a right to a proper medical care  He has a right to economic security and to a decent standard of living and to perform productive work.  He should live with his own family or with foster parents and participate in different forms of community life. The family with which he lives should receive assistance.  He has a right to a qualified guardian when this is required to protect his personal well-being and interests.  He has a right to protection from exploitation, abuse and degrading treatment.  Whenever he is unable, because of the severity of their handicap, to exercise all their rights in a meaningful way or it should become necessary to restrict or deny some or all of these rights, the procedure used for that restriction or denial of rights must contain proper legal safeguards against every form of abuse.
  • 7.
  • 8. Definition A group of disorders Mental retardation is stigmatizing . Intellectual disability. In Europe, learning disability Global developmental delay Diagnostic and Statistical Manual of Mental Disorders, fourth Edition
  • 9.  Intelligence quotient:   It is calculated according to the formula
  • 10.  Grading of intellectual disability:  Mild intellectual disability: IQ 50-55 to 70  Moderate intellectual disability IQ 35-40 to 50-55  Severe intellectual disability IQ 20-25 to 35-40  Profound intellectual disability IQ below 20-25  Intellectual disability, Severity unspecified, when there is strong presumption of intellectual disability but the person’s intelligence is untestable by standard tests.
  • 11. Developmental periods is defined as the period of time between conception & the 18th birthday. Adaptive behavior is defined as the degrees with which the person meets the standards of personal independence & social responsibility expected of his age & cultural group.
  • 12.
  • 13. 1- Genetic factors:  Metabolic and/or neurodegenerative disorder: PKU, Tay-Sachs  Chromosomal disorder: Down syndrome, Klinefelter syndrome  Genetic syndromes: Fragile X and Prader-Willi syndrome  Nonsyndromic autosomal mutations: SYNGAP1, GRIK2, TUSC3  Developmental brain abnormality: Hydrocephalus ± meningomyelocele, lissencephaly Etiology (Cause versus Risk factor)
  • 14.
  • 15. 2-Prenatal causes: Infection  Rubella  Cytomegalovirus  Syphilis  Toxoplasmosis, herpes simplex Endocrine disorders  Hypothyroidism  Hypoparathyrodism —  Diabetes mellitus Intoxication Physical damage & disorders  Injury  Hypoxia  Radiation  Hypertension  Anemia  Emphysema Placental dysfunction  Toxemia of pregnancy  Placenta previa  Cord prolapse  Nutrition growth retardation
  • 16. 3- Perinatal Factors  Birth asphyxia  Prolonged or difficult birth  Prematurity  Kernicterus  Instrumental delivery 4- Postnatal Factors  Infections i. Encephalitis ii. Measles iii. Meningitis iv. Septicemia  Accidents  Lead poisoning 5- Environmental & socio-cultural Factors  Cultural deprivation  Low socio-economic status  Inadequate caretakers  Child abuse 6- Familial intellectual disability: Environment, syndromic, or genetic 7- Unknown
  • 17. Epidemiology  15% worldwide have physical or mental disability  http://www.cbsnews.com/news/15  According to DSM-IV-TR, 2.5% of the population have ID  ID occurs more in boys than in girls: 2 : 1 in mild intellectual disability and 1.5 : 1 in severe intellectual disability (X-linked disorders.
  • 18. ‫كلمة‬ ‫التستخدم‬ ‫فضلك‬ ‫من‬(‫متخلفة‬) ‫طفلة‬ ‫أنا‬‫جميلة‬
  • 19.
  • 20.  Egypt has a national census every 10 years since 1907  Egypt: overall prevalence of 3.9%(Assiut Governorate, representing the Egyptian population). Temtamy et al 1994  Percent distribution of Disabled Persons by Type of Disability in 1996
  • 22. Diagnosis  History taking from parents & caretakers  Physical examination  Neurological examination  Developmental assessment  Psychological assessment  Investigations:  Laboratory studies  Imaging studies  Electrophysiologic studies  Histologic Findings  Psychological tests
  • 23. History taking: Signs and symptoms Patients may demonstrate the following:  Language delay.  Fine motor/adaptive delay: self-feeding, and dressing,,,  Cognitive delay: memory, problem-solving, and logical reasoning  Social delays: Lack of interest in age-appropriate toys and delays in imaginative play and reciprocal play with age- matched peers  Gross motor developmental delay  Behavioral disturbances: hyperactivity, disordered sleep, aggression, self-injury,.  Neurologic and physical abnormalities. Extensive Family history (a pedigree of 3 generations or more)
  • 24. Developmental assessment  At regular intervals.  Parents' Evaluation of Developmental Status (PEDS), Ages and Stages Questionnaires (ASQ) and Child Development Inventories (CDI). Bayley Infant Neurodevelopmental Screener, Battelle Developmental Inventory and Early Language Milestone Scale. Behavioral observations should focus on the child's communicative intent, social skills, eye contact, compliance, attention span, impulsivity, and style of play. Physical examination  Head circumference  Height and weight  Neurological exam  Visual impairment and hearing deficits  Skin: Extremities
  • 25. Laboratory studies ( according to….) 1-Genetic study  karyotyping  Fragile X testing  FISH probes 2-Metabolic screening:  Urinary organic acids (organic acidopathies)  Urinary mucopolysaccharides and oligosaccharides (mucopolysaccharidoses)  Plasma 7-DHC (Smith-Lemli-Opitz syndrome)  Thyroid function tests  Very-long-chain fatty acids (peroxisomal disorders)  Creatine kinase (in the assessment of profound central hypotonia versus myopathy) 3-lead testing Imaging studies  Brain CT and MRI  Skeletal films
  • 26. Electrophysiologic studies  Auditory evoked potentials  Visual evoked potentials  EEG is not recommended as part of the routine work-up of MR unless the history is suggestive of seizures or a specific epileptic syndrome Histologic Findings  Dendritic spines number, maturity and morphology. Psychological tests  Bayley Scales of Infant Development  Stanford-Binet Intelligence Scale  Wechsler Preschool and Primary Scale of Intelligence-Revised (WPPSI-R)  Wechsler Intelligence Scale for Children–IV (WISC-IV)  Vineland Adaptive Behavior Scales-II
  • 27.
  • 28. Dr Hussein Abdeldayem Prof of Pediatric Neurology, Alex University
  • 32. Aim: Early recognition and intervention Dimensions: 1- Prevention 2- Treatment: improvement over time but rarely “cured”. Early and accurate intervention Rehabilitation Dealing with comorbidities Prevent further complications and deterioration 3- follow- up
  • 33. Prevention - More important and of low cost - - Levels: - Primary: prevent the occurrence of the disease (immunization , genetic counseling. etc.. Prevent - Secondary Prevention (early detection (prenatal diagnosis and newborn screening) Stop or reverse - Tertiary: Prevent complications - Quaternary : (set of health activities that diminish or avoid the consequences of unnecessary or excessive interventions in the health system) less cost  Examples:  PKU, Congenital hypothyroidism, Galactosemia, Congenital rubella syndrome , Fetal Alcohol syndrome, Maternal diseases and infection , Perinatal asphyxia. Iron and iodine deficiency etc,,,,,,,,,,,,,,,,,,,,,,,,  Developmental screening tests : Infants at high risk
  • 34.
  • 35. Treatment? KEY COMPONENTS OF SUCCESSFUL TREATMENT PROGRAMS  Time Factor  Team Approach  Individualized (patient) Planning  Family involvement  Cultural Considerations  Community commitment  Peer Interaction
  • 36.  Developmental pediatrician or psychologist  Genetic specialist and counselor  Psychiatrist  Dentist  Special education/educational therapist  Occupational, speech and/or physical therapist  Behaviorist  Pharmacist  Durable medical equipment providers  Social services agencies/social workers
  • 37.  Treatments Developmental and Educational Services:  Special education programs: An Individualized Education Program (IEP) Behavioral Techniques as family therapy, individual child behavior therapy, cognitive– behavioural therapy, psychodynamic therapies, parent training, and group therapy: preventative and therapeutic for children and parents. Pharmacological Treatment :  Improvement not cure  Psychopharmacological Intervention: Medications are targeted to specific comorbid psychiatric disease or behavioral disturbances like psychostimulants for ADHD and neuroleptic for aggression and self-injury.  No specific pharmacologic treatment is available for cognitive deficiency. Although the pharmacologic enhancement of cognition is an area of interest, research on it is limited. Diet: Dietary restrictions (such as yeast and gluten-free regimens) vitamin and mineral supplements is generally not supported by research). Activity: Obesity is prevalent , regular physical activity should be included in the management plan. participation in peer activities, sports gain self-esteem . Encourgement of evidence based medicine and minimize the gap between research and practice
  • 38. Smart drugs “Nootropics"Intelligence enhancers, are drugs, supplements, nutraceuticals, and functional foods that improve one or more aspects of mental function, such as working memory, motivation, and attention. Intense marketing may not correlate with efficacy; while scientific studies support the beneficial effects of some compounds Rationale of use: poorly understood mechanisms of action, not be as a substitute for appropriate services and possibly dangerous side effecs may be present I ncluding:  Stimulants : Amphetamine, methylphenidate, caffeine, nicotine, armodafinil and modafinil  Omega-3 fatty acids  Nutraceuticals: Bacopa monnieri, panax ginseng.salvia officinalis. ginkgo biloba and soflavones  Racetams: pramiracetam, oxiracetam, coluracetam, and aniracetam
  • 39. Follow up Outpatient Care Regular evaluation at least annually:  Treatment of associated impairments  Pharmacotherapy  Behavior management  Educational services  Family counseling  Health Education  Family support and education around the issues of MR can be obtained from the following:  The Arc  American Association on Intellectual and Developmental Disabilities  Exceptional Parent Magazine  National Organization for Rare Disorders (NORD)  Brain and Nervous System Center.
  • 40.
  • 41.
  • 43.
  • 44.
  • 45. Prognosis  Mild to moderate mental retardation has good prognosis.  severe to profound ID has a decreased life expectancy.  Comorbid psychiatric and physical conditions  Down syndrome may prdispose to Alzheimer's disease in later life
  • 46. Pascal Duquenne won the Best Actor Award at the 1996 Cannes Film Festival for his role in The Eight Day.
  • 47. Special Olympian, swimmer and president of the disability rights organization the Karen Gaffney Foundation. She is the first living person with Down syndrome to receive an honorary doctorate degree.
  • 48.
  • 49. DISABILITY: IN THE BRAIN, IN THE PUBLIC MIND
  • 50.
  • 51. Skills Raise the suspicion Detect early Mimickers and dual diagnosis Team bonding Discover patient characteristics Communicate effectively: patient, family and others Respect and sympathy
  • 52.
  • 53.
  • 54. By Dr: Samir MM Al-Minshawy Lecturer of Neuropediatrics Minia University
  • 55. 2nd Scientific Day including EEG Workshop: 17 Sept 2015