Cognitive impairment, and Autism

Diseases related with Cognitive impairment and Autism

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Autism that can help you solving undiagnosed cases.


Top matches:

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG


The Houge type of X-linked syndromic mental retardation is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. EEG tends to show continuous spike-wave activity or centrotemporal spikes. Some patients may have remission of seizures by adolescence. Carrier females may be mildly affected (summary by Damiano et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG

Medium match MENTAL RETARDATION, X-LINKED 9; MRX9


Nonsyndromic mental retardation.

MENTAL RETARDATION, X-LINKED 9; MRX9 Is also known as mental retardation, x-linked 44|mrx44

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 9; MRX9

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Other less relevant matches:

Medium match MONOAMINE OXIDASE A DEFICIENCY


Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.

MONOAMINE OXIDASE A DEFICIENCY Is also known as brunner syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Cognitive impairment
  • Motor delay
  • Tremor


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MONOAMINE OXIDASE A DEFICIENCY

Medium match SCHIZOPHRENIA; SCZD


Schizophrenia is a psychosis, a disorder of thought and sense of self. Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. There is no characteristic pathology, such as neurofibrillary tangles in Alzheimer disease (OMIM ). Schizophrenia is a common disorder with a lifetime prevalence of approximately 1%. It is highly heritable but the genetics are complex. This may not be a single entity.Schizophrenia and bipolar disorder (see {125480}) are generally considered to be separate entities, but patients who exhibit multiple symptoms of both disorders are often given the hybrid diagnosis schizoaffective disorder (Blacker and Tsuang, 1992). Genetic Heterogeneity of Schizophrenia with or without an Affective DisorderSCZD4 (OMIM ) is associated with variation in the PRODH gene (OMIM ); SCZD9 (OMIM ) with variation in the DISC1 gene (OMIM ); SCZD15 (OMIM ) with variation in the SHANK3 gene (OMIM ); SCZD16 (OMIM ) with a chromosome duplication involving the VIPR2 gene (OMIM ); SCZD17 (see {614332}) with variation in the NRXN1 gene (OMIM ); SCZD18 (OMIM ) with variation in the SLC1A1 gene (OMIM ); and SCZD19 (OMIM ) with variation in the RBM12 gene (OMIM ).For associations pending confirmation, see MAPPING and MOLECULAR GENETICS.

SCHIZOPHRENIA; SCZD Is also known as schizophrenia with or without an affective disorder

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Behavioral abnormality
  • Depressivity
  • Dementia


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA; SCZD

Medium match L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY


L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.

L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY Is also known as arginine:glycine amidinotransferase deficiency|gatm deficiency|agat deficiency|creatine deficiency syndrome due to agat deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY

Medium match FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY


Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.

FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY Is also known as juberg-hellman syndrome|efmr|epilepsy, female-restricted, with mental retardation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY

Medium match EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD


Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013).The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see {117100}). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011).

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN8 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47; EIEE47


Early infantile epileptic encephalopathy-47 is a neurologic disorder characterized by onset of intractable seizures in the first days or weeks of life. EEG shows background slowing and multifocal epileptic spikes, and may show hypsarrhythmia. Most patients have developmental regression after seizure onset and show persistent intellectual disability and neurologic impairment, although the severity is variable. Treatment with phenytoin, a voltage-gated sodium channel blocker, may be beneficial (summary by Guella et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47; EIEE47

Top 5 symptoms//phenotypes associated to Cognitive impairment and Autism

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Delayed speech and language development Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Autistic behavior Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Autism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


EEG abnormality Ataxia Generalized hypotonia Hyperactivity Developmental regression Encephalopathy Motor delay Behavioral abnormality Epileptic encephalopathy Intellectual disability, severe Psychosis Focal-onset seizure Status epilepticus Microcephaly Absent speech Attention deficit hyperactivity disorder Aggressive behavior Febrile seizures

Rare Symptoms - Less than 30% cases


Generalized tonic-clonic seizures Language impairment Cerebellar atrophy Intellectual disability, mild Impulsivity Neurological speech impairment Depressivity Visual impairment Generalized myoclonic seizures Apraxia Tremor Bruxism Chronic constipation Oromotor apraxia Agnosia Perisylvian polymicrogyria Speech apraxia Epileptic spasms Aphasia Dysphasia Dysdiadochokinesis Hemiparesis Urinary incontinence Generalized-onset seizure Hyperventilation Progressive cerebellar ataxia Polymicrogyria Cutaneous photosensitivity Intellectual disability, moderate EEG with centrotemporal focal spike waves Abnormal facial shape Absence seizures Intermittent hyperventilation Atonic seizures Hemiclonic seizures Dysarthria Postnatal microcephaly Continuous spike and waves during slow sleep Intracellular accumulation of autofluorescent lipopigment storage material Limb ataxia Hypohidrosis Optic disc pallor Inability to walk Poor speech Severe global developmental delay Muscular hypotonia of the trunk Constipation Ventriculomegaly Gait disturbance Feeding difficulties Cerebral visual impairment Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Vacuolated lymphocytes Hypsarrhythmia Restlessness Hyperactive deep tendon reflexes Focal impaired awareness seizure Clumsiness Abnormal autonomic nervous system physiology Broad-based gait Progressive visual loss Nevus Irritability Mental deterioration Reduced visual acuity Myoclonus Visual loss Arnold-Chiari type I malformation Cerebral atrophy Infantile muscular hypotonia Dystonia Diarrhea Chorea Dyskinesia Small for gestational age Anxiety Rigidity Dementia Vitreomacular adhesion Violent behavior Low frustration tolerance Kinetic tremor Flushing Self-injurious behavior Palpitations Headache Pontocerebellar atrophy Abnormality of extrapyramidal motor function Periorbital fullness Cerebral cortical atrophy Depressed nasal bridge Macrotia Thick lower lip vermilion Delayed gross motor development Long palpebral fissure Abnormality of the distal phalanx of finger Poor coordination Nystagmus Strabismus Cerebellar hypoplasia Esotropia Oculomotor apraxia Incoordination Bradykinesia Hallucinations Fever Myopathy Hyperreflexia Spasticity Scoliosis Abnormality of creatine metabolism Organic aciduria Progressive proximal muscle weakness Long fingers Decreased muscle mass Gowers sign Failure to thrive in infancy Aciduria Proximal muscle weakness Pes cavus Elevated serum creatine phosphokinase High palate Increased body weight Preeclampsia Schizophrenia Akinesia Alzheimer disease Neurofibrillary tangles Bipolar affective disorder Delusions Borderline personality disorder Muscle weakness Mood swings Auditory hallucinations Mania Personality disorder Social and occupational deterioration Failure to thrive Multifocal epileptiform discharges



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