Autism differential diagnosis: Difference between revisions

	Autism Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Autism from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
CT
MRI
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Behavioral Therapy
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Autism differential diagnosis On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Autism differential diagnosis All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Autism differential diagnosis
CDC on Autism differential diagnosis
Autism differential diagnosis in the news
Blogs on Autism differential diagnosis
Directions to Hospitals Treating Type page name here
Risk calculators and risk factors for Autism differential diagnosis

VisualWikitext

Revision as of 14:17, 2 April 2018

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Aditya Ganti M.B.B.S. [2]

Overview

Diagnosis of autism is based on behavior, but not cause or mechanism. Autism must be differentiated from other group of diseases with similar neurological presentations such as lack of social or emotional reciprocity, stereotyped and repetitive use of language or idiosyncratic language, and persistent preoccupation with parts of objects. Most common differential include Reitts disorders, other differentials include Leigh syndrome, Niemann-Pick disease type C, infantile muscle spasms.

Differentiating Autism from other Diseases

Diagnosis of autism is based on behavior, not cause or mechanism. Autism must be differentiated from other group of diseases with similar neurological presentations such as lack of social or emotional reciprocity, stereotyped and repetitive use of language or idiosyncratic language, and persistent preoccupation with parts of objects. ^[1]^[2]

The following table summaries the common diseases that need to be considered during differentials of autism include .^[3]^[4]^[5]^[6]^[7]^[8]^[9]^[7]^[10]

Diseases	Type of motor abnormality				Clinical findings	Laboratory findings and diagnostic tests	Radiographic findings
Diseases	Spasticity	Hypotonia	Ataxia	Dystonia	Clinical findings	Laboratory findings and diagnostic tests	Radiographic findings
Leigh syndrome	-	-	+	+	Progressive psychomotor regression Seizures External ophthalmoplegia Lactic acidosis Vomiting	Increased lactate levels in blood and CSF Genetic testing	MRI: abnormal white matter signal in the putamen, basal ganglia, and brainstem on T2 images
Niemann-Pick disease type C	-	-	+	+	Progressive neurodegeneration Hepatosplenomegaly Systemic involvement of liver, spleen, or lung preceedes neurologic symptoms	Abnormal liver function tests Fibroblast cell culture with filipin staining	MRI: Cerebral and cerebellar atrophy Thinning of the corpus callosum
Infantile Refsum disease	-	+	+	-	Abnormalities of the optic nerve and disc Retinitis pigmentosa Sensorineural hearing loss Hepatomegaly and cirrhosis Neurologic deterioration is slower than in Zellweger syndrome or ALD	Elevated plasma VLCFA levels	--
Adrenoleukodystrophy	+	-	-	-	Cognitive and behavioral abnormalities Adrenal insufficiency Hyperpigmented skin Gonadal dysfunction Neurologic deterioration progresses at a variable rate	Elevated plasma VLCFA levels Molecular genetic testing for mutations in the ABCD1 gene	--
Zellweger syndrome	-	+	-	-	Craniofacial dysmorphism Hepatomegaly Neonatal seizures Profound developmental delay MRI findings include cortical and white matter abnormalities Neurologic deterioration is rapid and infants rarely survive beyond six months of age	Elevated plasma VLCFA levels Elevated levels of phytanic acid, pristanic acid, and pipecolic acid in plasma and fibroblasts Reduced plasmalogen in erythrocytes Molecular genetic testing for mutations in the PEX1 or PEX6 genes	--
Pyruvate dehydrogenase deficiency	+	+	+	-	Lactic acidosis Seizures Intellectual disability	Elevated lactate and pyruvate levels in blood and CSF Abnormal PDH enzymatic activity in cultured fibroblasts	--
Arginase deficiency	+	-	-	-	Hyperammonemia Encephalopathy Respiratory alkalosis	Elevated ammonia level Elevated arginine level	--
Holocarboxylase synthetase deficiency	-	+	-	-	Ketoacidosis Dermatitis Alopecia Seizures Developmental delay	Elevated levels of: Beta-hydroxyisovalerate Beta-methylcrotonylglycine Beta-hydroxypropionate Methylcitrate Tiglylglycine	--
Glutaric aciduria type 1	-	-	-	+	Episodes of metabolic decompensation and encephalopathy often precipitated by infection and fever Rarely presents in the newborn period Microencephalic macrocephaly Seizures (approximately 20 percent) Cognitive function is preserved	Elevated levels of: glutaric acid 3-hydroxyglutaric acid	MRI: Frontal and temporal atrophy
Ataxia telangiectasia	-	-	+	-	Progressive cerebellar ataxia Abnormal eye movements Oculocutaneous telangiectasias Immune deficiency Increased risk of malignancy	Elevated serum alpha-fetoprotein level Low IgA and IgG levels Lymphopenia Genetic testing for mutation in the ATM gene	--
Pontocerebellar hypoplasias	-	+	-	-	Progressive muscle atrophy Microcephaly Developmental delay	Genetic testing for PCH gene mutations	MRI : Small cerebellum and brainstem including the pons
Metachromatic leukodystrophy	-	+	+	-	Regression of motor skills Seizures Optic atrophy Reduced or absent deep tendon reflexes Intellectual disability	Deficient arylsulfatase A enzyme activity in leukocytes or cultured skin fibroblasts	--
Pelizaeus-Merzbacher	+	-	+	-	Nystagmus Cognitive impairment Onset in infancy Slowly progressive Language development may be normal	Genetic testing for mutations in PLP1 gene	MRI: White matter abnormalities
Angelman syndrome	-	-	+	-	Profound intellectual disability Postnatal microcephaly Typical abnormal behaviors (paroxysmal laughter, easily excitable)	Methylation studies and chromosome microarray to detect chromosome 15 anomalies and UBE3A mutations	--
Rett syndrome	+	-	-	+	Occurs almost exclusively in females Normal development during first six months followed by regression and loss of milestones Loss of speech capability Stereotypic hand movements Seizures Autistic features	Clinical diagnosis Genetic testing for MECP2 mutations	--
Lesch-Nyhan syndrome	+	-	-	+	Self-mutilating behavior Urinary stones due to hyperuricemia	Elevated uric acid level Abnormal enzymatic activity of HPRT in cultured fibroblasts Genetic testing for HPRT gene mutations	--
Miller-Dieker lissencephaly	+	+	-	-	Lissencephaly Microcephaly Dysmorphic features Seizures Failure to thrive	Cytogenetic testing for 17p13.3 microdeletion	--
Dopa-responsive dystonia	+	-	-	+	Onset in early childhood Symptoms worsen with fatigue and exercise	Positive response to a trial of levodopa	--

References

↑ London E (2007). "The role of the neurobiologist in redefining the diagnosis of autism". Brain Pathol. 17 (4): 408–11. doi:10.1111/j.1750-3639.2007.00103.x. PMID 17919126.
↑ Baird G, Cass H, Slonims V (2003). "Diagnosis of autism". BMJ. 327 (7413): 488–93. doi:10.1136/bmj.327.7413.488. PMID 12946972.
↑ American Psychiatric Association (2000). "Diagnostic criteria for 299.00 Autistic Disorder". Diagnostic and Statistical Manual of Mental Disorders (4th ed., text revision (DSM-IV-TR) ed.). ISBN 0890420254. Retrieved 2007-06-25.
↑ World Health Organization (2006). "F84. Pervasive developmental disorders". International Statistical Classification of Diseases and Related Health Problems (10th ed. (ICD-10) ed.). Retrieved 2007-06-25.
↑ Lord C, Cook EH, Leventhal BL, Amaral DG (2000). "Autism spectrum disorders". Neuron. 28 (2): 355–63. doi:10.1016/S0896-6273(00)00115-X. PMID 11144346.
↑ American Psychiatric Association (2000). "Diagnostic criteria for 299.80 Asperger's Disorder (AD)". Diagnostic and Statistical Manual of Mental Disorders (4th ed., text revision (DSM-IV-TR) ed.). ISBN 0890420254.
↑ ^7.0 ^7.1 Dover CJ, Le Couteur A (2007). "How to diagnose autism". Arch Dis Child. 92 (6): 540–5. doi:10.1136/adc.2005.086280. PMID 17515625.
↑ Mantovani JF (2000). "Autistic regression and Landau-Kleffner syndrome: progress or confusion?". Dev Med Child Neurol. 42 (5): 349–53. doi:10.1111/j.1469-8749.2000.tb00104.x. PMID 10855658.
↑ Landa RJ (2008). "Diagnosis of autism spectrum disorders in the first 3 years of life". Nat Clin Pract Neurol. 4 (3): 138–47. doi:10.1038/ncpneuro0731. PMID 18253102.
↑ Wiggins LD, Baio J, Rice C (2006). "Examination of the time between first evaluation and first autism spectrum diagnosis in a population-based sample". J Dev Behav Pediatr. 27 (2 Suppl): S79–87. PMID 16685189.

Template:WH Template:WS

[London-1] London E (2007). "The role of the neurobiologist in redefining the diagnosis of autism". Brain Pathol. 17 (4): 408–11. doi:10.1111/j.1750-3639.2007.00103.x. PMID 17919126.

[2] Baird G, Cass H, Slonims V (2003). "Diagnosis of autism". BMJ. 327 (7413): 488–93. doi:10.1136/bmj.327.7413.488. PMID 12946972.

[3] American Psychiatric Association (2000). "Diagnostic criteria for 299.00 Autistic Disorder". Diagnostic and Statistical Manual of Mental Disorders (4th ed., text revision (DSM-IV-TR) ed.). ISBN 0890420254. Retrieved 2007-06-25.

[ICD-10-F84.0-4] World Health Organization (2006). "F84. Pervasive developmental disorders". International Statistical Classification of Diseases and Related Health Problems (10th ed. (ICD-10) ed.). Retrieved 2007-06-25.

[5] Lord C, Cook EH, Leventhal BL, Amaral DG (2000). "Autism spectrum disorders". Neuron. 28 (2): 355–63. doi:10.1016/S0896-6273(00)00115-X. PMID 11144346.

[6] American Psychiatric Association (2000). "Diagnostic criteria for 299.80 Asperger's Disorder (AD)". Diagnostic and Statistical Manual of Mental Disorders (4th ed., text revision (DSM-IV-TR) ed.). ISBN 0890420254.

[Dover-7] 7.0 ^7.1 Dover CJ, Le Couteur A (2007). "How to diagnose autism". Arch Dis Child. 92 (6): 540–5. doi:10.1136/adc.2005.086280. PMID 17515625.

[8] Mantovani JF (2000). "Autistic regression and Landau-Kleffner syndrome: progress or confusion?". Dev Med Child Neurol. 42 (5): 349–53. doi:10.1111/j.1469-8749.2000.tb00104.x. PMID 10855658.

[Landa3-9] Landa RJ (2008). "Diagnosis of autism spectrum disorders in the first 3 years of life". Nat Clin Pract Neurol. 4 (3): 138–47. doi:10.1038/ncpneuro0731. PMID 18253102.

[10] Wiggins LD, Baio J, Rice C (2006). "Examination of the time between first evaluation and first autism spectrum diagnosis in a population-based sample". J Dev Behav Pediatr. 27 (2 Suppl): S79–87. PMID 16685189.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]

[10]

@@ Line 1: / Line 1: @@
 __NOTOC__
 {{Autism}}
-{{CMG}}
+{{CMG}} ; {{AE}} {{ADG}}
+== Overview ==
+Diagnosis of autism is based on behavior, but not cause or mechanism. Autism must be differentiated from other group of diseases with similar neurological presentations such as lack of social or emotional reciprocity, stereotyped and repetitive use of language or idiosyncratic language, and persistent preoccupation with parts of objects. Most common differential include Reitts disorders, other differentials include [[Leigh syndrome]], [[Niemann-Pick]] disease type C, infantile muscle spasms.
 ==Differentiating Autism from other Diseases==
-Diagnosis is based on behavior, not cause or mechanism.<ref name=London>{{cite journal |journal=Brain Pathol |year=2007 |volume=17 |issue=4 |pages=408–11 |title= The role of the neurobiologist in redefining the diagnosis of autism |author= London E |doi=10.1111/j.1750-3639.2007.00103.x |pmid=17919126}}</ref><ref>{{cite journal |journal=BMJ |date=2003 |volume=327 |issue=7413 |pages=488–93 |title= Diagnosis of autism |author= Baird G, Cass H, Slonims V |doi=10.1136/bmj.327.7413.488 |pmid=12946972 |url=http://www.bmj.com/cgi/content/full/327/7413/488}}</ref> Sample symptoms include lack of social or emotional reciprocity, stereotyped and repetitive use of language or idiosyncratic language, and persistent preoccupation with parts of objects. Onset must be prior to age three years, with delays or abnormal functioning in either social interaction, language as used in social communication, or symbolic or imaginative play. The disturbance must not be better accounted for by [[Rett syndrome]] or [[childhood disintegrative disorder]].<ref>{{cite book |title= Diagnostic and Statistical Manual of Mental Disorders |edition=4th ed., text revision ([[DSM-IV-TR]]) |author= [[American Psychiatric Association]] |date=2000 |isbn=0890420254 |chapter= Diagnostic criteria for 299.00 Autistic Disorder |chapterurl=http://behavenet.com/capsules/disorders/autistic.htm |accessdate=2007-06-25}}</ref> [[ICD-10]] uses essentially the same definition.<ref name=ICD-10-F84.0>{{cite book |chapterurl=http://who.int/classifications/apps/icd/icd10online/?gf80.htm+f840 |date=2006 |accessdate=2007-06-25 |title= International Statistical Classification of Diseases and Related Health Problems |edition= 10th ed. ([[ICD-10]]) |author= [[World Health Organization]] |chapter= F84. Pervasive developmental disorders}}</ref> Of the other four PDD forms, [[Asperger syndrome]] is closest to autism in signs and likely causes; [[Rett syndrome]] and [[childhood disintegrative disorder]] share several signs with autism, but may have unrelated causes; [[PDD not otherwise specified]] (PDD-NOS) is diagnosed when the criteria are not met for a more specific disorder.<ref>{{cite journal |author= Lord C, Cook EH, Leventhal BL, Amaral DG |title= Autism spectrum disorders |journal=Neuron |volume=28 |issue=2 |date=2000 |pages=355–63 |doi=10.1016/S0896-6273(00)00115-X |pmid=11144346}}</ref> Unlike autism, Asperger's has no substantial delay in [[language development]].<ref>{{cite book |title= Diagnostic and Statistical Manual of Mental Disorders |edition=4th ed., text revision ([[DSM-IV-TR]]) |author= [[American Psychiatric Association]] |date=2000 |isbn=0890420254 |chapter= Diagnostic criteria for 299.80 Asperger's Disorder (AD) |chapterurl=http://behavenet.com/capsules/disorders/asperger.htm}}</ref>
+Diagnosis of autism is based on behavior, not cause or mechanism. Autism must be differentiated from other group of diseases with similar neurological presentations such as lack of social or emotional reciprocity, stereotyped and repetitive use of language or idiosyncratic language, and persistent preoccupation with parts of objects. <ref name="London">{{cite journal |journal=Brain Pathol |year=2007 |volume=17 |issue=4 |pages=408–11 |title= The role of the neurobiologist in redefining the diagnosis of autism |author= London E |doi=10.1111/j.1750-3639.2007.00103.x |pmid=17919126}}</ref><ref>{{cite journal |journal=BMJ |date=2003 |volume=327 |issue=7413 |pages=488–93 |title= Diagnosis of autism |author= Baird G, Cass H, Slonims V |doi=10.1136/bmj.327.7413.488 |pmid=12946972 |url=http://www.bmj.com/cgi/content/full/327/7413/488}}</ref>
-A [[pediatrician]] commonly performs a preliminary investigation by taking developmental history and physically examining the child. If warranted, diagnosis and evaluations are conducted with help from ASD specialists, observing and assessing cognitive, communication, family, and other factors using standardized tools, and taking into account any associated medical conditions. A [[differential diagnosis]] for ASD at this stage might also consider [[mental retardation]], [[hearing impairment]], and a [[specific language impairment]]<ref name=Dover/> such as [[Landau-Kleffner syndrome]].<ref>{{cite journal |journal= Dev Med Child Neurol |year=2000 |volume=42 |issue=5 |pages=349–53 |title= Autistic regression and Landau-Kleffner syndrome: progress or confusion? |author= Mantovani JF |doi=10.1111/j.1469-8749.2000.tb00104.x |pmid=10855658}}</ref> ASD can sometimes be diagnosed by age 14 months, although diagnosis becomes increasingly stable over the first three years of life: for example, a one-year-old who meets diagnostic criteria for ASD is less likely than a three-year-old to continue to do so a few years later.<ref name=Landa3>{{cite journal |journal= Nat Clin Pract Neurol |date=2008 |volume=4 |issue=3 |pages=138–47 |title= Diagnosis of autism spectrum disorders in the first 3 years of life |author= Landa RJ |doi=10.1038/ncpneuro0731 |pmid=18253102}}</ref> In the UK the National Autism Plan for Children recommends at most 30 weeks from first concern to completed diagnosis and assessment, though few cases are handled that quickly in practice.<ref name=Dover>{{cite journal |journal= Arch Dis Child |date=2007 |volume=92 |issue=6 |pages=540–5 |title= How to diagnose autism |author= Dover CJ, Le Couteur A |doi=10.1136/adc.2005.086280 |pmid=17515625}}</ref> A 2006 U.S. study found the average age of first evaluation by a qualified professional was 48 months and of formal ASD diagnosis was 61 months, reflecting an average 13-month delay, all far above recommendations.<ref>{{cite journal |journal= J Dev Behav Pediatr |date=2006 |volume=27 |issue=2 Suppl |pages=S79–87 |title= Examination of the time between first evaluation and first autism spectrum diagnosis in a population-based sample |author= Wiggins LD, Baio J, Rice C |pmid=16685189}}</ref>
-During regression some features of Rett syndrome are similar to those of autism. It is, hence, easy to mistakenly diagnose Rett syndrome for [[autism]].
-Symptoms of Rett syndrome that are similar to autism:
+The following table summaries the common diseases that need to be considered during differentials of autism include .<ref>{{cite book |title= Diagnostic and Statistical Manual of Mental Disorders |edition=4th ed., text revision ([[DSM-IV-TR]]) |author= [[American Psychiatric Association]] |date=2000 |isbn=0890420254 |chapter= Diagnostic criteria for 299.00 Autistic Disorder |chapterurl=http://behavenet.com/capsules/disorders/autistic.htm |accessdate=2007-06-25}}</ref><ref name="ICD-10-F84.0">{{cite book |chapterurl=http://who.int/classifications/apps/icd/icd10online/?gf80.htm+f840 |date=2006 |accessdate=2007-06-25 |title= International Statistical Classification of Diseases and Related Health Problems |edition= 10th ed. ([[ICD-10]]) |author= [[World Health Organization]] |chapter= F84. Pervasive developmental disorders}}</ref><ref>{{cite journal |author= Lord C, Cook EH, Leventhal BL, Amaral DG |title= Autism spectrum disorders |journal=Neuron |volume=28 |issue=2 |date=2000 |pages=355–63 |doi=10.1016/S0896-6273(00)00115-X |pmid=11144346}}</ref><ref>{{cite book |title= Diagnostic and Statistical Manual of Mental Disorders |edition=4th ed., text revision ([[DSM-IV-TR]]) |author= [[American Psychiatric Association]] |date=2000 |isbn=0890420254 |chapter= Diagnostic criteria for 299.80 Asperger's Disorder (AD) |chapterurl=http://behavenet.com/capsules/disorders/asperger.htm}}</ref><ref name="Dover" /><ref>{{cite journal |journal= Dev Med Child Neurol |year=2000 |volume=42 |issue=5 |pages=349–53 |title= Autistic regression and Landau-Kleffner syndrome: progress or confusion? |author= Mantovani JF |doi=10.1111/j.1469-8749.2000.tb00104.x |pmid=10855658}}</ref><ref name="Landa3">{{cite journal |journal= Nat Clin Pract Neurol |date=2008 |volume=4 |issue=3 |pages=138–47 |title= Diagnosis of autism spectrum disorders in the first 3 years of life |author= Landa RJ |doi=10.1038/ncpneuro0731 |pmid=18253102}}</ref><ref name="Dover">{{cite journal |journal= Arch Dis Child |date=2007 |volume=92 |issue=6 |pages=540–5 |title= How to diagnose autism |author= Dover CJ, Le Couteur A |doi=10.1136/adc.2005.086280 |pmid=17515625}}</ref><ref>{{cite journal |journal= J Dev Behav Pediatr |date=2006 |volume=27 |issue=2 Suppl |pages=S79–87 |title= Examination of the time between first evaluation and first autism spectrum diagnosis in a population-based sample |author= Wiggins LD, Baio J, Rice C |pmid=16685189}}</ref>
-* screaming fits
+{|
-* [[panic attack]]
+|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
-* inconsolable crying
+! rowspan="2" |Diseases
-* avoidance of eye contact
+! colspan="4" |Type of motor abnormality
-* lack of social/emotional reciprocity
+! rowspan="2" |Clinical findings
-* general lack of interest
+! rowspan="2" |Laboratory findings and diagnostic tests
-* markedly impaired use of nonverbal behaviors to regulate social interaction
+! rowspan="2" |Radiographic findings
-* loss of speech
+|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
-* Balance and coordination problems, including losing the ability to walk in many cases
+!Spasticity
+!Hypotonia
+!Ataxia
+!Dystonia
+|-
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Leigh syndrome]]
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki>
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" |
+*Progressive [[psychomotor]] regression
+*[[Seizures]]
+*External [[ophthalmoplegia]]
+*[[Lactic acidosis]]
+*[[Vomiting]]
+| style="background: #F5F5F5; padding: 5px;" |
+*Increased [[lactate]] levels in [[blood]] and [[CSF]]
+*Genetic testing
+| style="background: #F5F5F5; padding: 5px;" |
+*MRI: abnormal [[white matter]] signal in the [[putamen]], [[basal ganglia]], and [[brainstem]] on T2 images
+|-
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Niemann-Pick]] disease type C
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" |
+*Progressive [[neurodegeneration]]
+*[[Hepatosplenomegaly]]
+*Systemic involvement of [[liver]], [[spleen]], or [[lung]] preceedes [[neurologic]] symptoms
+| style="background: #F5F5F5; padding: 5px;" |
+*Abnormal [[liver]] function tests
+*[[Fibroblast]] cell culture with filipin staining
+| style="background: #F5F5F5; padding: 5px;" |
+*MRI:
+**[[Cerebral]] and [[cerebellar]] [[atrophy]]
+**Thinning of the [[corpus callosum]]
+|-
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |Infantile Refsum disease
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" |
+*Abnormalities of the [[optic nerve]] and disc
+*[[Retinitis pigmentosa]]
+*[[Sensorineural]] hearing loss
+*[[Hepatomegaly]] and [[cirrhosis]]
+*[[Neurologic]] deterioration is slower than in [[Zellweger syndrome]] or ALD
+| style="background: #F5F5F5; padding: 5px;" |Elevated plasma VLCFA levels
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | --
+|-
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Adrenoleukodystrophy]]
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" |
+*[[Cognitive]] and behavioral abnormalities
+*[[Adrenal insufficiency]]
+*[[Hyperpigmented]] skin
+*[[Gonadal dysfunction]]
+*[[Neurologic]] deterioration progresses at a variable rate
+| style="background: #F5F5F5; padding: 5px;" |
+*Elevated plasma VLCFA levels
+*Molecular [[genetic testing]] for mutations in the ABCD1 gene
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | --
+|-
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Zellweger syndrome]]
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" |
+*[[Craniofacial]] dysmorphism
+*[[Hepatomegaly]]
+*Neonatal [[seizures]]
+*Profound developmental delay
+*[[MRI]] findings include [[cortical]] and [[white matter]] abnormalities
+*[[Neurologic deterioration]] is rapid and infants rarely survive beyond six months of age
+| style="background: #F5F5F5; padding: 5px;" |
+*Elevated plasma VLCFA levels
+*Elevated levels of [[phytanic acid]], pristanic acid, and pipecolic acid in plasma and [[fibroblasts]]
+*Reduced plasmalogen in [[erythrocytes]]
+*Molecular [[genetic]] testing for [[mutations]] in the PEX1 or PEX6 genes
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | --
+|-
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Pyruvate dehydrogenase deficiency]]
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" |
+*[[Lactic acidosis]]
+*[[Seizures]]
+*[[Intellectual disability]]
+| style="background: #F5F5F5; padding: 5px;" |
+*Elevated [[lactate]] and pyruvate levels in [[blood]] and CSF
+*Abnormal PDH enzymatic activity in cultured fibroblasts
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | --
+|-
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Arginase deficiency]]
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" |
+*[[Hyperammonemia]]
+*[[Encephalopathy]]
+*[[Respiratory alkalosis]]
+| style="background: #F5F5F5; padding: 5px;" |
+*Elevated [[ammonia]] level
+*Elevated [[arginine]] level
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | --
+|-
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |Holocarboxylase synthetase deficiency
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" |
+*[[Ketoacidosis]]
+*[[Dermatitis]]
+*[[Alopecia]]
+*[[Seizures]]
+*[[Developmental delay]]
+| style="background: #F5F5F5; padding: 5px;" |Elevated levels of:
+*Beta-hydroxyisovalerate
+*Beta-methylcrotonylglycine
+*Beta-hydroxypropionate
+*Methylcitrate
+*Tiglylglycine
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | --
+|-
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |Glutaric aciduria type 1
+| style="background: #F5F5F5; padding: 5px;" |<nowiki>-</nowiki>
+| style="background: #F5F5F5; padding: 5px;" |<nowiki>-</nowiki>
+| style="background: #F5F5F5; padding: 5px;" |<nowiki>-</nowiki>
+| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki>
+| style="background: #F5F5F5; padding: 5px;" |
+*Episodes of [[metabolic decompensation]] and [[encephalopathy]] often precipitated by [[infection]] and [[fever]]
+*Rarely presents in the newborn period
+*Microencephalic [[macrocephaly]]
+*[[Seizures]] (approximately 20 percent)
+*[[Cognitive function]] is preserved
+| style="background: #F5F5F5; padding: 5px;" |Elevated levels of:
+*[[glutaric acid]]
+*3-hydroxyglutaric acid
+| style="background: #F5F5F5; padding: 5px;" |
+*MRI:
+**[[Frontal]] and [[temporal]] [[atrophy]]
+|-
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Ataxia telangiectasia]]
+| style="background: #F5F5F5; padding: 5px;" |<nowiki>-</nowiki>
+| style="background: #F5F5F5; padding: 5px;" |<nowiki>-</nowiki>
+| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki>
+| style="background: #F5F5F5; padding: 5px;" |<nowiki>-</nowiki>
+| style="background: #F5F5F5; padding: 5px;" |
+*Progressive [[cerebellar]] [[ataxia]]
+*Abnormal eye movements
+*[[Oculocutaneous]] [[telangiectasias]]
+*Immune deficiency
+*Increased risk of [[malignancy]]
+| style="background: #F5F5F5; padding: 5px;" |
+*Elevated serum alpha-fetoprotein level
+*Low [[IgA]] and [[IgG]] levels
+*[[Lymphopenia]]
+*Genetic testing for [[mutation]] in the ATM gene
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | --
+|-
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Pontocerebellar]] [[hypoplasias]]
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" |
+*Progressive muscle [[atrophy]]
+*[[Microcephaly]]
+*[[Developmental delay]]
+| style="background: #F5F5F5; padding: 5px;" |[[Genetic]] testing for PCH gene mutations
+| style="background: #F5F5F5; padding: 5px;" |
+*MRI :
+**Small [[cerebellum]] and [[brainstem]] including the [[pons]]
+|-
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Metachromatic leukodystrophy]]
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" |
+*Regression of motor skills
+*[[Seizures]]
+*[[Optic atrophy]]
+*Reduced or absent [[deep tendon reflexes]]
+*[[Intellectual disability]]
+| style="background: #F5F5F5; padding: 5px;" |
+*Deficient arylsulfatase A enzyme activity in [[leukocytes]] or cultured skin fibroblasts
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | --
+|-
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Pelizaeus-Merzbacher]]
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" |
+*[[Nystagmus]]
+*[[Cognitive impairment]]
+*Onset in infancy
+*Slowly progressive
+*Language development may be normal
+| style="background: #F5F5F5; padding: 5px;" |
+*[[Genetic]] testing for [[mutations]] in PLP1 gene
+| style="background: #F5F5F5; padding: 5px;" |
+*MRI:
+**[[White matter]] abnormalities
+|-
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Angelman syndrome]]
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" |
+*Profound [[intellectual disability]]
+*Postnatal [[microcephaly]]
+*Typical abnormal behaviors (paroxysmal laughter, easily excitable)
+| style="background: #F5F5F5; padding: 5px;" |
+*Methylation studies and [[chromosome]] microarray to detect chromosome 15 anomalies and UBE3A mutations
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | --
+|-
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Rett syndrome]]
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" |
+*Occurs almost exclusively in females
+*Normal development during first six months followed by regression and loss of milestones
+*Loss of speech capability
+*Stereotypic hand movements
+*[[Seizures]]
+*[[Autistic]] features
+| style="background: #F5F5F5; padding: 5px;" |
+*Clinical diagnosis
+*[[Genetic]] testing for MECP2 mutations
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | --
+|-
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Lesch-Nyhan syndrome]]
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" |
+*[[Self-mutilating]] behavior
+*[[Urinary]] stones due to [[hyperuricemia]]
+| style="background: #F5F5F5; padding: 5px;" |
+*Elevated [[uric acid]] level
+*Abnormal enzymatic activity of HPRT in cultured fibroblasts
+*[[Genetic]] testing for HPRT gene [[mutations]]
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | --
+|-
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |Miller-Dieker lissencephaly
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" |
+*[[Lissencephaly]]
+*[[Microcephaly]]
+*[[Dysmorphic]] features
+*[[Seizures]]
+*Failure to thrive
+| style="background: #F5F5F5; padding: 5px;" |
+*Cytogenetic testing for 17p13.3 microdeletion
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | --
+|-
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |Dopa-responsive [[dystonia]]
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" |
+*Onset in early childhood
+*Symptoms worsen with [[fatigue]] and exercise
+| style="background: #F5F5F5; padding: 5px;" |
+*Positive response to a trial of [[levodopa]]
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | --
+|}
 ==References==

Autism differential diagnosis: Difference between revisions

Revision as of 14:17, 2 April 2018

Overview

Differentiating Autism from other Diseases

References

Navigation menu