DSM V

DISCLOSURES

! Chief Medical Officer & Scientific Advisor, MitoMedical LLC

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NEURODEVELOPMENTAL DISORDERS IN DSM-V

!! AUTISM SPECTRUM DISORDER !! COMMUNICATION DISORDERS !! INTELLECTUAL DISABILITIES !! ATTENTION-DEFICIT/HYPERACTIVITY DISORDER !! SPECIFIC LEARNING DISORDER !! MOTOR DISORDERS !! OTHER NEURODEVELOPMENTAL DISORDERS

NEURODEVELOPMENTAL DISORDERS IN DSM-V

!! AUTISM SPECTRUM DISORDER !! COMMUNICATION DISORDERS !! INTELLECTUAL DISABILITIES !! ATTENTION-DEFICIT/HYPERACTIVITY DISORDER !! SPECIFIC LEARNING DISORDER !! MOTOR DISORDERS !! OTHER NEURODEVELOPMENTAL DISORDERS

WHEN DID AUTISM APPEAR?

!! First description in the medical literature in 1943 !! Leo Kanner established the first academic child psychiatry department (Johns Hopkins University) !! Parents that Kanner worked with described their children as being like in a shell, happiest when left alone, and acting as if people werent there

WHEN DID AUTISM APPEAR?

!! Described a distinct syndrome to replace prior depictions

feeble-minded, retarded, moronic, idiotic, or schizoid ! Kanner has, thought what nobody has yet thought, about that which everybody sees. (Erwin Schrodinger)

AUTISM IN THE DSM

!! DSM-I (1952) & DSM-II (1968)

NO TERM Autism or Pervasive Developmental Disorder

!! DSM-III (1980)
PERVASIVE DEVELOPMENTAL DISORDERS: Childhood Onset PDD, Infantile Autism, Atypical Autism

!! DSM-III-R (1987)
PERVASIVE DEVELOPMENTAL DISORDERS: Autistic Disorder, PDD-NOS

!! DSM-IV and DSM-IV-TR (1994 & 2000)

PERVASIVE DEVELOPMENTAL DISORDERS: Autistic Disorder, Asperger Disorder, PDD-NOS, Childhood Disintegrative Disorder, Rett Syndrome

DSM V

! AUTISM SPECTRUM DISORDER (299.0) DIAGNOSTIC CRITERIA ! A. Persistent deficits in social communication and social interaction across multiple contexts ! B. Restricted, repetitive patterns of behavior, interests, or activities ! C. Onset in early developmental period ! D. Clinically significant impairment in social, occupational, or other important areas of current functioning ! E. Not better explained by intellectual disability SPECIFY severity for A&B (degree of support required Levels 1 to 3) SPECIFY with or without intellectual disability, language impairment, known medical/genetic/environmental factor

DSM-IV VERSUS DSM-V

! AUTISM SPECTRUM DISORDER (299.0) (T)he new criteria lend themselves to a more careful and tailored approach to diagnosis, relying more on clinical judgment and allowing diagnosticians to better capture the nuances of the disorder. This level of personalization was lacking in older versions of the DSM because the way it was designed to categorize people according to an all or nothing checklist. - Stephen Kanne, The DSM-V: A clinicians perspective, Autism Speaks

DSM V

! AUTISM SPECTRUM DISORDER (299.0) DIAGNOSTIC CRITERIA

! A. Persistent deficits in social communication and social interaction across multiple contexts ! B. Restricted, repetitive patterns of behavior, interests, or activities
! ! ! C. Onset in early developmental period D. Clinically significant impairment in social, occupational, or other important areas of current functioning E. Not better explained by intellectual disability

SPECIFY severity for A&B (degree of support required Levels 1 to 3) SPECIFY with or without intellectual disability, language impairment, known medical/genetic/environmental factor

DEFICITS IN SOCIAL COMMUNICATION & SOCIAL INTERACTION

A1. Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions.

DEFICITS IN SOCIAL COMMUNICATION & SOCIAL INTERACTION

A2. Deficits in nonverbal communicative behaviors used for social interaction, ranging from poorly integrated verbal and nonverbal communication, to abnormalities in eye contact and body language or deficits in understanding and using gestures, to a total lack of facial expressions and nonverbal communication.

DEFICITS IN SOCIAL COMMUNICATION & SOCIAL INTERACTION

A3. Deficits in developing, maintaining, and understanding relationships, ranging, for example, from difficulties adjusting behavior to suit various social contexts, to difficulties in sharing imaginative play or in making friends, to absence of interest in peers.

RESTRICTED, REPETITIVE PATTERNS

B1. Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor stereotypies, lining up toys or flipping objects, echolalia, idiosyncratic phrases).

RESTRICTED, REPETITIVE PATTERNS

B2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns or behavior (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, need to take same route or eat same food every day).

RESTRICTED, REPETITIVE PATTERNS

B3. Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).

RESTRICTED, REPETITIVE PATTERNS

B4. Hyper- or hyporeactivity to sensory input or unusual interests in sensory aspects of the environment (e.g., apparent indifference to pain/ temperature, adverse response to specific sounds or textures, excessive smelling or touching of objects, visual fascination with lights or movement).

FOLLOW-UP #1

"! 2 ! year-old boy "! Normal development up to 1 year, then atypical development
"! Language (single words) "! Social interaction (inconsistent eye contact and response to name) "! Intense interest in numbers and letters

"! Sudden onset of staring spells, sometimes with hand/finger posturing, facial grimacing, and eye deviation. Regression of language, communication, & social interaction over 2 months. "! ADOS & ADIR Classified as Autistic Disorder

FOLLOW-UP #1

"! Normal 24-hour EEG (episodes not seizures) "! Normal brain MRI "! Lab tests
"! Plasma amino acids showed slightly elevated alanine/lysine ratio

"! "! "! "!

Started mitochondrial cocktail (Johns Hopkins Protocol) Started parent training program Staring spells with posturing stopped within a few weeks Reversal of regression: Language and social interaction returned back to baseline and then developed rapidly

DSM V: COMMUNICATION DISORDERS

REGROUPING and RENAMING

1. LANGUAGE DISORDER Combines Expressive and Mixed Receptive-Expressive Language Disorders - Persistent difficulties in the acquisition and use of language across modalities (i.e., spoken, written, sign language, or other) due to deficits in comprehension or production. 2. SPEECH SOUND DISORDER formerly Phonological disorder 3. CHILDHOOD-ONSET FLUENCY DISORDER formerly Stuttering

NEW COMMUNICATION DISORDER

! SOCIAL (PRAGMATIC) COMMUNICATION DISORDER (315.39) DIAGNOSTIC CRITERIA ! A. Persistent difficulty in the social use of verbal and nonverbal communication ! B. Deficits result in functional limitations in communication, social life, academic achievement, or occupational performance ! C. Onset in early developmental period ! D. Not attributed to another disorder (medical, neurological, ASD, ID, GDD, etc.) !! May be used for children with significant social communication and/or pragmatic language impairments but dont meet diagnostic criteria for autism !! Better conceptualized as a dimensional symptom profile that may be present across a range of neurodevelopmental disorders (Norbury, JCPP 2013).

DSM V: MENTAL RETARDATION REPLACED BY INTELLECTUAL DEVELOPMENTAL DISORDER

Idiocy, Feeble-mindedness Moron, Imbecile Defective Mental handicap Mental retardation INTELLECTUAL DEVELOPMENTAL DISORDER (319)

INTELLECTUAL DISABILITY (INTELLECTUAL DEVELOPMENT DISORDER)

Intellectual developmental disorder is a disorder with onset during the developmental period that includes both intellectual and adaptive functioning & deficits in conceptual, social, and practical domains.

INTELLECTUAL DISABILITY (INTELLECTUAL DEVELOPMENT DISORDER)

The following three criteria must be met:

A. Deficits in intellectual functions, such as reasoning, problem solving, planning, abstract thinking, judgment, and academic learning and learning from experience, confirmed by both clinical assessment and individualized, standardized intelligence testing. B. Deficits in adaptive functioning that result in failure to meet developmental and sociocultural standards for personal independence and social responsibility. Without ongoing support, the adaptive deficits limit functioning in one or more activities of daily life, such as communication, social participation, and independent living, and across multiple environments, such as home, school, work, and recreation. C. Onset of intellectual and adaptive deficits during the developmental period.

INTELLECTUAL DISABILITY (INTELLECTUAL DEVELOPMENT DISORDER)

The following three criteria must be met:

A. Deficits

in intellectual functions, such as reasoning, problem solving, planning, abstract thinking, judgment, and academic learning and learning from experience, confirmed by both clinical assessment and individualized, standardized intelligence testing.

B. Deficits in adaptive functioning that result in failure to meet developmental and sociocultural standards for personal independence and social responsibility. Without ongoing support, the adaptive deficits limit functioning in one or more activities of daily life, such as communication, social participation, and independent living, and across multiple environments, such as home, school, work, and recreation. C. Onset of intellectual and adaptive deficits during the developmental period.

INTELLECTUAL DISABILITY (INTELLECTUAL DEVELOPMENT DISORDER)

The following three criteria must be met:

A. Deficits in intellectual functions, such as reasoning, problem solving, planning, abstract thinking, judgment, and academic learning and learning from experience, confirmed by both clinical assessment and individualized, standardized intelligence testing. B. Deficits

in adaptive functioning that result in failure to meet developmental and sociocultural standards for personal independence and social responsibility. Without ongoing support, the adaptive deficits limit functioning in one or more activities of daily life, such as communication, social participation, and independent living, and across multiple environments, such as home, school, work, and recreation.

C. Onset of intellectual and adaptive deficits during the developmental period.

THE CAUSES OF INTELLECTUAL DISABILITY

PRENATAL Genetic Acquired Unknown

PERINATAL Birth asphyxia Infection Stroke Very low birth weight, extreme prematurity Metabolic (hypoglycemia) Etc.

POSTNATAL Toxins Infection Stroke Trauma Poor nutrition Poverty Etc.

THE CAUSES OF INTELLECTUAL DISABILITY

In what percent of cases is the cause of intellectual disability identified?

THE CAUSES OF INTELLECTUAL DISABILITY

CAUSE UNDETERMINED 50-85%

THE CAUSES OF INTELLECTUAL DISABILITY

What is the most common genetic cause?

THE CAUSES OF INTELLECTUAL DISABILITY

What is the most common inherited genetic cause?

THE CAUSES OF INTELLECTUAL DISABILITY

What is the most common preventable cause (in the U.S.)?

THE CAUSES OF INTELLECTUAL DISABILITY

What is the most common preventable cause (worldwide)?

THANK YOU

CLINICAL PRACTICE LOCATIONS Pediatric Neurology Therapeutics 12702 Via Cortina Del Mar, CA 92014 & Rady Childrens Hospital Neurodevelopmental Disorders Clinic Email: sgoh@gohmd.com Web: www.gohmd.com Phone: 415-317-4514