pervasive devel disorders

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Pervasive Developmental Disorders Dr .B . Shailaja

Plan of Presentation: 

Plan of Presentation Introduction Definition Classification Epidemiology Etiology Diagnosis & Clinical features Differential diagnosis Course Treatment

History: 

History Autismus ( Latin ) - Eugen Bleuler He derived it from the Greek word autós (αὐτός, meaning self ), and used it to mean morbid self-admiration, referring to "autistic withdrawal of the patient to his fantasies, against which any influence from outside becomes an intolerable disturbance". [173]

History: 

History Dr. Leo kanner  (1943) psychiatrist of the Johns Hopkins Hospital in Baltimore reported on 11 child patients with striking behavioral similarities, and introduced the label early infantile autism autistic disturbance of affective contact Congenital inability to relate with people Not associated with Mental retardation Described occasional areas of ability splinter skills and uneven & unusual ability called Savant skills Michael rutter described autism as a disorder in DSM - III

History: 

History At the same time an Austrian scientist, Dr. Hans Asperger, made similar observations, although his name has since become attached to a different “higher-functioning”, form of autism known as Asperger’s syndrome.

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Pervasive Developmental Disorders(Defnition): A heterogeneous collection of disorders affecting young children’s social interaction and ability to communicate, commonly combined with stereotyped behavioral patterns.

Classification: 

Classification DSM-IV ICD-10 a)Autistic disorder a)Childhood Autism b)Rett’s disorder b)Atypical Autism c)Childhood disintegrative c)Childhood disintegrative disorder disorder d)Asperger’s disorder d)Asperger’s disorder e)PDD NOS e)Overactive disorder with Mental retardation and stereotypic movement f)Other PDD g)PDD unspecified

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Epidemiology: Prevalence : 8 in 10000 Sex distribution: M:F = 4-5:1 Girls with autistic disorder are more likely to have more severe mental retardation. Socioeconomic status: High socioeconomic status was common in families with autistic children, however these findings were probably based on referral bias.

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Etiology: Biological Factors: Since autism is associated with higher rates of associated MR & seizures the role of biological factors play a strong role. Appro. 75% of children with Autism have MR 1/3 rd have mild to moderate MR ½ have severe to profound MR 4-32% have seizures at sometime of their age 20-25% show ventricular enlargement (CT Finding)

Psycho social theories: 

Psycho social theories Refrigerator mother who is unresponsive to child’s emotional needs (Kanner) Genetic factors First degree relatives 80 fold increase MZT 60% concordance for autism 90% for broader phenotype Chromosome most common – 2,7 others 4,15 &19 Genes - neuroligin,shank 3,contactin associated protein 2 & neurexin 1(synapse formation) ENGRAILED 2 gene for cerebellar pattening is abnormal causing deficit in purkinje neurons

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cMET gene for tangential migration of gaba interneuron leading to imbalance in excitatory and inhibitory neurotransmission Reelin gene mutation causing inverted laying of cerebral cotex Underlying causes of gene abnormality Polymorphism CNV Epigenetics Association with genetic disorders like fragile X, Tuberculosis,Phenylketoneuria and Neuro fibramatosis supports the genetic basis

Neurodevelopmental basis: 

Neurodevelopmental basis Normal head size at birth with increase in head size at one year Abnormal neuro development as indicated by Increase neuro genesis Abnormal migration Decreased neuronal cell death Bcl 2 Abnormal synapse formation, prunning Post mortem studies and Neuro Imaging Post mortem studies Increased brain volumes Reduction in purkinje and granule cells of vermis of cerebellum

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Lack of gliosis indicating scaring (Suggestive of prenatal origin) Reduced neuronal size Decreased dendritic arborization Increased neuronal packing density in amygdala and hippocampus MRI Increased brain size (temporal parietal occipital) Enlarged amygdalaand ACC Abnormalities of amygdalocortical loopes Reduced midsagittal area of vermis Reduced purkinji cells but enlarged cerebellum

FMRI: 

FMRI Abnormal Activation Amygdala Medial prefrontal cotex Orbital PFC Fusiform gyrus Superior temporal sulcus PET Scan Reduced coordinated bran activity Autistic individuals tend to use different areas of the brain (yellow) for a movement task compared to a control group (blue). [93]

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Conclusion Lack of central coherence of information due to less neural integration Increased brain size at expense of interconnectivity between neural systems cause fragmented processing TOM (Neural Basis) Sense of self - Right inferior perital lobule Sense of others STS Temporal pole MPFC OFC Amygdala Mirror neurons found in frontal and STS understands mental state of others

Integrative circuit model of ToM: 

Integrative circuit model of ToM Inferior Parietal Lobule Superior Temporal Sulcus Amygdala OFC ven med PFC ACC dor med PFC Inf lat PFC (Abu-Akel 2003) Self Other Self & Other Self & Other

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Decoding of emotions Face – fusiform gyrus, insula(disgust) Body movements and gestures –STS Prosody of speech Inability to understand others prosody of speech – right posterior superior temporal cotex Lack of prosody of speech – right posterior inferior frontal lobe Functions Language and non verbal communication Anticipation of course of action Detect difference between self and others Imitation Perceive emotions

Sally Anne task: 

Sally Anne task Step 1 Step 2

Sally Anne task: 

Sally Anne task Step 4 Step 5

Sally Anne task: 

Sally Anne task Step 6 Normal children are able to realize that Sally’s mental state involves the ball being in the basket and can be different from that of Anne .

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Neurochemistry Increased peripheral 5HT Increased DA in CSF Increased enkephalin and endorphin (Unclear) Immunological Factors:- Role of maternal antibodies against foetus may contribute for autism. Prenatal – Exposure to infections ,Rubella, CMV, Herpes Perinatal Factors:- Maternal bleeding after 1 st trimester, meconium in amniotic fluid are postulated for cause of Autism. Psychosocial Factors:- Stressors like family discord, birth of a new sibling or a family more was postulated but no evidence.

Diagnosis & Clinical Features: 

Diagnosis & Clinical Features Delay or abnormal functioning in at least one of the following areas, with onset prior to age 3 yrs a) social integration b) Language as used in social communication c) Stereotypic behavior

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2) Qualitative impairment in social interaction (atleast two): Marked impairment in the use of non-verbal behavior such as eye-to-eye gaze, facial expression, body postures & gestures to regulate social interaction. Failure to develop peer relationships. Lack of spontaneous seeking to share enjoyment, interests with other people ( Eg: lack of showing, bringing or pointing out objects of interest) Lack of social or emotional reciprocity.

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3)Quantitative impairments in communication (atleast one) Delay in a total lack of the development of spoken language. In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others. Stereotypic use of language Lack of imitative play

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4) Restricted repetitive and stereotyped patterns of behavior, interests or activities (at least one) Stereotyped interests Inflexible adherence to specific, non-functioning routines or rituals. Stereotyped and repetitive motor manifestations. Persistant preoccupation with parts of object

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Social Symptoms Lack of awareness or existence/feelings of others Absence of or abnormal seeking of comfort at times of distress Absence of, or impaired imitation Impairment in making peer relationships Lack of spontaneous seeking to share enjoyment, interests or achievements with other people. Lack of social or emotional reciprocity

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Communication Verbal 30-50% No functional use of language Even if verbal – comprehension, spoken/written language – limited Lack of intention to communicate expressive/receptive language Social use of language – most impaired Poor repair strategies – when conversation break down Echolalia Monotonic and non reciprocal speech

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Pronoun reversal Idiosyncratic use of speech Mother name than mummy Unusual language development – neologism Non verbal communication Non Verbal No pointing/gestures No nodding Primitive form of communication Intentions – to be guessed Unusual attachment to object, toy Attachment to the parts of objects Imitative behaviour – limited

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Same activity, playing or watching same channel/movie - repeatedly Resistance to change results in tamper tantrums Stereotyped behavior Rigid repetitive monotonous play like spinning, line up objects Stereotypis ,mannerisms and grimacing Resistant to change Motor and sensory abnormalities Overactivity Echopraxia Hyper or hypo sensitivity to sensory stimuli Enjoy vestibular stimulation (Spinning) Little response to normal speaking voice (Interest in wrist watch

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Instability of mood and self injurious behavior Associated physical illness URTI and GI Infections Intellectual functioning Splinter functioning Problems with verbal sequencing and abstract skills and strengths in Visio spatial and rote memory skills Comorbidity 75% MR 30% seizures 1% fragile X 2% Tuberous sclerosis Neurofibromatosis Phenylketoneuria,Rubella

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Differential Diagnosis Aspergers Onset after 3 years No language delay Marked circumscribed interest More familial Retts syndrome Onset at 6 months More in females Decrease in head circumference Childhood disintegrative disorder Starts at 2 years following normal development

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Schizophrenia Rare before 5 years Delusions and hallucinations Deterioration in functioning MR Even intellectual impairment Non expressive communication Mixed receptive expressive language disorder Hearing and articulation problems Acquired aphasia with convulsions Normal for several years followed by loose language

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Congenital deafness Normal babbling Relate to parents Psycho social deprivation Rapid improvement in enriched environment Course and prognosis 2/3 rd severely handicapped 1 to 2% normal independent status 5 to 20% borderline normal status Good prognostic factors - Good communication in less than 5 years - Higher non verbal intellectual level - Normal IQ - Early intervention

PHARMACOTHERAPY : 

PHARMACOTHERAPY Hyperactive behavior – stimulants Perseveration, obsessions and mood disturbances - SSRI Aggression, destruction self injurious behavior -tranquilizers, Risperidone Mood liability – mood stabilizers Epilepsy - anti epileptics Naltrexone

PSYCHOLOGICAL INTERVENTION : 

PSYCHOLOGICAL INTERVENTION Educational approaches Highly structured special education Speech language therapy Social and communication skill therapy Behavior modification Applied behavioral analysis – 20 to 40 hrs, one to one interaction in step by step manner Shaping Extinction

Psychotherapy: 

Psychotherapy Individual psychotherapy in high functional autism with depressive symptoms with focus on problem solving skills Sensory integration Focus on vestibular, tactile ,proprioception Many techniques used to stimulate these senses in order to normalize Occupational therapy Music therapy As a mode to communicate and express feelings Improves communication

Complimentary and Alternative medicines: 

Complimentary and Alternative medicines Gluten and caesin free diet Antifungal Secretin Proteolytic enzymes – papain,bromelain Zinc substitute, pimrose oil Multivitamins and minerals like Zinc and Magnesium Cranial osteopathy

RETTS DISORDER: 

RETTS DISORDER Normal development for 6 months followed by devastating developmental deterioration Head circumference decelerates Epidemiology – 6 in 100,000 girls Etiology – Hyperammonemia Clinical features – Loss of previously acquired purposeful skills Breathing difficulties – apoenic episodes alternating with hyper ventilation Early scoliosis

Pathological and laboratory findings: 

Pathological and laboratory findings Elevated level of copper and ammonia in blood Cortical atrophy – loss of neurons in SN and caudate nucleus Differential Diagnosis Autism Aspergers Childhood disintegrative disorder Course and prognosis Progressive neuro degenerative condition leading to non ambulatory and motor problems Risk of death

Treatment: 

Treatment Special education Behavior modification Physical and respiratory therapies

CHILDHOOD DISINTERGRATIVE DISORDER : 

CHILDHOOD DISINTERGRATIVE DISORDER Defnition : Marked regression in multiple areas of development after 3 years of normal development Epidemilogy : 1 in 100,000 children Etilogy : Data on neurobiology is limited Asscociated with neurolipidosis , metachromatic leukodystrophy Clinical features : Normal for atleast 2 years followed by loss of previously acquired skills of communication, social interaction, bladder and bowel control Stereotypic behavior

Differential diagnosis: 

Differential diagnosis Autism Retts Schizophrenia Landau kleffner syndrome – aphasia with epilepsy Course Deteriorate and stabilize (MC) Gain back previous functioning (Rare) Deteriorate and progress to death (Rare) Treatment Special eduction Behavioral treatment

ASPERGERS SYNDROME: 

ASPERGERS SYNDROME Defnition : Characterized by impairment in social interaction and restricted interests & behaviour Lack of significant language delay Cognitive skills intact Epidemiology : 1 to 2 in 10,000 Male : Female = 9 : 1 Etiology : Stronger genetic contribution than in autism Genetic finding in autism extend to this condition Clinical features Impairment in social interaction Approaching others in eccentric manner Marked circumscribed interest

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Insensitivity to others feelings and intentions Languages marked by poor prosody, too fast or lack fluency, voluminous with circumstantiality , tangentiality and loosening One sided conversational style Significant deficit in visiomotor and conceptual learning Anxiety and depression can occur in adolescence Differential diagnosis Autism without mental retardation Atypical autism Schizoid personality disorder Schizophrenia

Course: 

Course More positive outcome Treatment Educational intervention – targeted at learning skills ,concepts and procedures Self sufficiency skills Problem solving strategies Social and communication skills Trained and placed in jobs which do not require intensive social demand Supportive psychotherapy Pharmacotherapy if anxiety and depression present

THANK YOU: 

THANK YOU Thank You