Progressive Intellectual Disability : Causes & Reasons

Possible Causes for Progressive Intellectual Disability

Typical clinical features, as described in decreasing order of frequency in one relatively large case series, include 1,2 : progressive intellectual disability with eventual [radiopaedia.org]

Fucosidosis is an extremely rare disorder first described in 1962 in two Italian siblings who showed progressive intellectual disability and neurological deterioration. [en.wikipedia.org]

Progressive neurological deterioration may result in intellectual disability, various movement disorders and/or uncontrolled rigid extensions and rotations of the arms, legs [hfea.gov.uk]

Richards-Rundle Syndrome

[…] or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. [bioportal.bioontology.org]

It is different from the Richards-Rundle syndrome, although both share the ataxia, deafness, and intellectual disability. [cags.org.ae]

[…] with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 2

However a high unmet medical need exists as around two thirds of patients have central nervous system disease, with progressive intellectual disability. [efpia.eu]

[…] towards profound intellectual disability. [patient.info]

In the neuronopathic form of the disease (formerly called early progressive more severe form), intellectual disabilities may be apparent in the early life of the patient. [rarediseases.org]

Mucopolysaccharidosis Type 3

This condition causes progressive intellectual disability and the loss of previously acquired skills (developmental regression). [ghr.nlm.nih.gov]

Additional clinical symptoms include intellectual disability, progressive neurologic symptoms including aggressive behavior, poor coordination, seizures and hearing loss. [genedx.com]

All forms of Sanfilippo syndrome are characterized by varying degrees of intellectual disability, progressive loss of previously acquired skills (e.g., language), and hearing [rarediseases.org]

Tay-Sachs Disease

Beginning at 6 months of age, children become progressively intellectually disabled and blindness develops. [merckmanuals.com]

intellectual disability, paralysis, and death by age 5 years. [merckmanuals.com]

Children with this disease start missing developmental milestones after 6 months of age and become progressively intellectually disabled, meaning that intellectual disability [merckmanuals.com]

Intellectual Disability

The patient was an 11-year-old girl with onset of seizures at the age of 18 months and followed by progressive intellectual disability (ID) later. [ncbi.nlm.nih.gov]

Milder cases of progressive intellectual disability can sometimes be traced to economic and environmental deprivation early in childhood—conditions that are associated with [britannica.com]

Praise for the 11th Edition “The 11th edition of the AAIDD Definition Manual continues our progress in both describing a person with an intellectual disability in several [aaidd.org]

Mucopolysaccharidosis Type 1

Early psychomotor development may be normal, however individuals with severe MPS I usually show progressive intellectual disability. [invitae.com]

[…] epilepsy-intellectual disability syndrome, Finnish type Progressive external ophthalmoplegia-myopathy-emaciation syndrome Progressive myoclonic epilepsy type 3 Proximal tubulopathy-diabetes [se-atlas.de]

Early development in children with severe MPS I may be normal; however, developmental delays and varying degrees of progressive intellectual disability ensue secondary to [medicalhomeportal.org]

Disorder of Amino Acid Metabolism

This results in severe progressive intellectual disability, if untreated by diet [ 8 ]. Newborn screening for PKU has been performed by heel prick since 1969. [patient.info]

Patients with this disease are predisposed to neurologic symptoms including cognitive deficits, seizures and spasticity, loss of ambulation, and severe intellectual disability [aegleabio.com]

Although the medical literature suggests that disease progression can be slowed with strict adherence to dietary protein restriction, there is no approved therapeutic agent [aegleabio.com]

Cockayne Syndrome

[…] cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosensitivity [ncbi.nlm.nih.gov]

Ariane Zaloszyc, Hélène Dollfus and Vincent Laugel Cockayne Syndrome CS is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive [genosmile.eu]

Affected children may experience varying degrees of intellectual disability, partial loss of hearing, and/or the progressive loss of previously acquired intellectual abilities [rarediseases.org]

Krabbe Disease

It affects infants and is characterized by intellectual disability, paralysis, blindness, deafness, and pseudobulbar palsy, progressing to death. [msdmanuals.com]

This disease affects infants and causes intellectual disability, paralysis, blindness, deafness, and paralysis of certain facial muscles (called pseudobulbar palsy), progressing [merckmanuals.com]

Krabbe disease is a sphingolipidosis, an inherited disorder of metabolism, that causes intellectual disability, paralysis, blindness, deafness, and pseudobulbar palsy, progressing [msdmanuals.com]

Phenylketonuria

Left untreated, the disorder can cause brain damage and progressive intellectual disability as a result of the accumulation of phenylalanine and its breakdown products. [yourdictionary.com]

Progressive intellectual disability results if PKU is not treated from early infancy. With treatment, children with PKU can grow and develop normally. [betterhealth.vic.gov.au]

If not treated, affected infants progressively develop intellectual disability over the first few years of life, which eventually becomes severe. [msdmanuals.com]

Classical Phenylketonuria

Left untreated, the disorder can cause brain damage and progressive intellectual disability as a result of the accumulation of phenylalanine and its breakdown products. phen [medical-dictionary.thefreedictionary.com]

Niemann-Pick Disease

intellectual and physical disability, death before age 15 Treatment: Enzyme replacement (idursulfase), supportive care, stem cell or bone marrow transplantation MPS III [merckmanuals.com]

Furthermore, psychiatric disturbances and the progressive loss of memory and intellectual ability (dementia) can develop. [rarediseases.org]

[…] epilepsy with intellectual disability (600143*) Transmembrane CLN8 protein CLN9 (609055*) — * For complete gene, molecular, and chromosomal location information, see the [merckmanuals.com]

Ataxia-Telangiectasia Syndrome

Speech becomes slurred, and muscles progressively weaken, leading to severe disability. Intellectual disability may develop and progress. [msdmanuals.com]

Progressive deterioration of motor function leads to serious disability by age 10 years. Intellectual impairment, if present, is usually mild. [aao.org]

Hallervorden-Spatz Syndrome

The spasticity and dystonia were progressive and disabling enough to restrict him to a wheelchair. His speech deteriorated, and he gradually stopped talking. [cmaj.ca]

His parents also observed an intellectual decline. [cmaj.ca]

Pelizaeus-Merzbacher Disease

Later signs of the illness include difficulty controlling muscle movements, impaired speech, developmental disability, and intellectual deficits. [disability-benefits-help.org]

The initial symptoms are usually nystagmus (jerking, involuntary eye movements) and low muscle tone which typically progresses quickly into frequent muscle spasms. [disability-benefits-help.org]

Cerebral Lipidosis

As the disease progresses, children with infantile TSD experience seizures, vision and hearing loss, intellectual disability and paralysis. [secure.ssa.gov]

intellectual function (dementia), increased startle reaction, irritability, listlessness, loss of motor skills, paralysis, seizures, and slow growth. [secure.ssa.gov]

Signs and symptoms of this disease includes: deafness, decreased eye contact, loss of muscle strength, delays of mental and social skills, progressive loss of cognitive and [secure.ssa.gov]

Lead Poisoning in Children

Chronic exposure, which is more common, is characterized by cognitive impairment and intellectual disability. [symptoma.com]

[…] of acute poisoning, where large concentrations of lead are seen in the circulation, encephalopathy, cerebral edema, vomiting, seizures and altered mental status that may progress [symptoma.com]

Spondyloepimetaphyseal Dysplasia Type Bieganski

[…] tag dystrophy type 2M intellectual disability, X-linked - Axial spondylometaphyseal dysplasia hypogammaglobulinemia - progressive neurological deterioration Blepharoptosis [fliphtml5.com]

disability - cataracts - kyphosis Autosomal recessive amelia intellectual disability - hypoplastic corpus Autosomal recessive limb-girdle muscular callosum - preauricular [fliphtml5.com]

disability, X-linked - epilepsy -166105 Deafness - genital anomalies - metacarpal and 2 cases 166038 progressive joint contractures - dysmorphism 2 cases metatarsal synostosis [fliphtml5.com]

Diffuse Cerebral Sclerosis of Schilder

Otitis Media [[…]] author on: Theo JM Verheij bDepartment of Otorhinolaryngology, University Medical Center Utrecht, Utrecht, The Netherlands Search for other works by this author on: Anne GM Schilder [fampra.oxfordjournals.org] Schilder A, Chonmaitree T, Cripps A, Rosenfeld R, Casselbrant M, Haggard M, Venekamp R.[…] [de.dict.md]

Tuberous Sclerosis

Tuberous sclerosis Other names Tuberous sclerosis complex (TSC), Bourneville disease A case of tuberous sclerosis showing facial angiofibromas in characteristic butterfly pattern Specialty Neurology, medical genetics Frequency 7 to 12 per 100,000[1] Tuberous sclerosis complex (TSC) is a rare multisystem autosomal[…] [en.wikipedia.org]

Qazi-Markouizos Syndrome

Property Value dbo:abstract Qazi–Markouizos syndrome is a rare hereditary condition characterized by non-progressive, congenital hypotonia, severe intellectual disability, [dbpedia.org]

Facets (new session) Description Metadata Settings Qazi–Markouizos syndrome is a rare hereditary condition characterized by non-progressive, congenital hypotonia, severe intellectual [dbpedia.org]

Orpha Number: 3010 Definition A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor [malacards.org]

Congenital Syphilis

Original paper Gaul, Johanna Sophia; Grossschmidt, Karl; Gusenbauer, Christian; Kanz, Fabian Abstract This study examines the skeletal remains of a subadult from an archeological site in Austria. Radiocarbon dating and archeological attribution indicate that this individual is of pre-Columbian origin. Most of the[…] [schweizerbart.de]

Subacute Sclerosing Panencephalitis

Subacute Sclerosing Panencephalitis (SSPE), Necrotizing Retinitis Diagnosis: Subacute Sclerosing Panencephalitis (SSPE), Necrotizing Retinitis Comment to photo: Author(s): Koniszewski, Gerd,, Univ.-Augenklinik, Erlangen, Germany ICD10-Code: B05.8 Path: Systemic Diseases -> Infections -> Virus -> Measles Additional[…] [atlasophthalmology.net]

Aspartylglucosaminuria

Aspartylglucosaminuria is a rare autosomal recessive lysosomal storage disorder leading early to a progressive intellectual disability. [ncbi.nlm.nih.gov]

The progression of intellectual disability is slow at first but increases with age. [genedx.com]

disability. [ggc.org]

Galactosialidosis

This form is distinguished by difficulty coordinating movements (ataxia), muscle twitches (myoclonus), seizures, and progressive intellectual disability. [ismrd.org]

Homocystinuria

Progressive intellectual disability. Seizures. Psychiatric problems. Skeletal problems (such as scoliosis, osteoporosis, or protrusion or depression of the breastbone). [peachtreepeds.com]

Mucopolysaccharidosis Type 7

Affected individuals may have developmental delay and progressive intellectual disability, although intelligence is unaffected in some people with this condition. [ghr.nlm.nih.gov]

disability Label. [drugbank.ca]

Affected individuals may have developmental delays in language and speech and progressive intellectual disability, although intelligence is normal in some people with this [rarediseases.org]

Syndrome AD,AR 99.92 325 of 326 PPP2R5D Autosomal Dominant Mental Retardation, Intellectual Disability-Macrocephaly- Hypotonia-Behavioral Abnormalities Syndrome AD 100 11 [igenomix.es]

Epilepsy- Intellectual Disability Syndrome AR 100 44 of 45 CNTNAP2 Pitt-Hopkins-like Syndrome AR 99.91 39 of 41 CSTB Myoclonic Epilepsy Of Unverricht And Lundborg, Autosomal [igenomix.es]

Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome, Smith-Magenis Syndrome X,XR,XD,G 99.73 NA of NA KANSL1 Koolen-de Vries Syndrome [igenomix.es]

Syndrome AD,AR 99.92 325 of 326 PPP2R5D Autosomal Dominant Mental Retardation, Intellectual Disability-Macrocephaly- Hypotonia-Behavioral Abnormalities Syndrome AD 100 11 [igenomix.es]

Epilepsy- Intellectual Disability Syndrome AR 100 44 of 45 CNTNAP2 Pitt-Hopkins-like Syndrome AR 99.91 39 of 41 CSTB Myoclonic Epilepsy Of Unverricht And Lundborg, Autosomal [igenomix.es]

Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome, Smith-Magenis Syndrome X,XR,XD,G 99.73 NA of NA KANSL1 Koolen-de Vries Syndrome [igenomix.es]