Progressive Intellectual Disability : Causes & Reasons

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Possible Causes for Progressive Intellectual Disability

Fucosidosis

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]

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]

A lysosomal storage disease characterized by the accumulation of fucose-containing glycolipids and glycoproteins in the tissues, resulting in intellectual disability, skeletal [medical-dictionary.thefreedictionary.com]

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]

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]

Richards-Rundle Syndrome

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]

disability or dementia) and ketoaciduria.Visit the Orphanet disease page for more resources. [malacards.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. [msdmanuals.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]

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 [msdmanuals.com]

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

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]

Phenylketonuria

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]

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]

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

Cockayne Syndrome

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

Affected individuals often have disproportional long extremities, joint contracture, intellectual disability, and progressive neurodegeneration leading to death, usually around [frontiersin.org]

[…] decline Cognitive decline, progressive Intellectual deterioration Progressive cognitive decline [ more ] 0001268 Microcephaly Abnormally small skull Decreased circumference [rarediseases.info.nih.gov]

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 [msdmanuals.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 [msdmanuals.com]

Ataxia Telangiectasia

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]

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

Synonyms: diffuse sclerosis, myelinoclastic diffuse sclerosis Schilder's myelinoclastic diffuse sclerosis is a rare sporadic demyelinating disease that usually affects children between 5 and 14 years old. It was first described by Paul Schilder in 1912 as a severe and fulminating syndrome of acute demyelinating disease.[1][…] [patient.info]

Tuberous Sclerosis

Tuberous sclerosis, also known as tuberous sclerosis complex or Bourneville disease, is a neurocutaneous disorder (phakomatosis) characterized by the development of multiple benign tumors of the embryonic ectoderm (e.g. skin, eyes, and nervous system). Tuberous sclerosis has an incidence of 1:6000-12,000, with most[…] [radiopaedia.org]

Cerebral Lipidosis

Cerebral lipidosis, now replaced by terms such as lipid storage disease and sphingolipidosis, encompasses a group of genetic disorders that induce metabolic changes and subsequent accumulation of lipids in the brain and the central nervous system. Most disorders in this group have a severe neonatal/infantile onset[…] [symptoma.com]

Qazi-Markouizos Syndrome

Qazi–Markouizos syndrome is a rare hereditary condition characterized by non-progressive, congenital hypotonia, severe intellectual disability, an increased proportion of [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

Clin Infect Dis. 2017 Aug 15;65(4):588-594. doi: 10.1093/cid/cix371. Hong FC 1, Wu XB 1, Yang F 1, Lan LN 1, Guan Y 1, Zhang CL 1, Feng TJ 1, Yang YZ 1, Yin YP 2, 3, 4, Yu WY 1, Chen XS 2, 3, 4 ; Shenzhen Program for Prevention of Congenital Syphilis (SPPCS) Collaborative Team ; Shenzhen Program for Prevention of[…] [ncbi.nlm.nih.gov]

Subacute Sclerosing Panencephalitis

Subacute sclerosing panencephalitis (SSPE) is a fatal complication of measles infection. We present a case of a fully vaccinated 3-year-old boy who was diagnosed with and treated for autoimmune encephalitis before arriving at a diagnosis of SSPE. We discuss the challenges of diagnosing SSPE in developed countries. [ncbi.nlm.nih.gov]

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). [cigna.com]

Hermann Syndrome

Help Watch the 'search for a disease' video tutorial Procedures: Orphanet inventory of rare diseases Orphanet maintains the Orphanet nomenclature of rare diseases, essential in improving the visibility of rare diseases in health and research information systems: each disease in Orphanet is attributed a unique and[…] [orpha.net]

Mucopolysaccharidosis Type 3A

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

Autosomal Recessive Spastic Paraplegia Type 50

Aliases & Classifications for Severe Intellectual Disability and Progressive Spastic... Summaries for Severe Intellectual Disability and Progressive Spastic... [malacards.org]

disability, progressive spastic paraplegia, shy character, and short stature. [link.springer.com]

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am. J. [invitae.com]