Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability provides the latest information on Autism spectrum disorders (ASDs), the lifelong neurodevelopmental disorders that present in early childhood and affect how individuals [books.google.com]

This karyotype, present in between 1-2 per thousand male births, is variable in its presentation, and frequently passes unnoticed; the usual clinical presentation is with hypogonadism or infertility. [diapedia.org]

Thus, we present a case of CADASIL with psychotic symptoms at a tertiary-care psychiatric hospital. [gpsych.bmj.com]

• Epilepsy

  Progressive myoclonic epilepsies. Curr Treat Options Neurol. 2002;4:3-17. Pranzatelli MR, Tate ED. Chloral hydrate for progressive myoclonus epilepsy: a new look at an old drug. Pediatr Neurol. 2001;25:385-89. [rarediseases.org]

  These seizures types are not always easily classified into existing epilepsy syndromes, but sometimes patients are diagnosed with a myoclonic astatic epilepsy (MAE, Doose Syndrome) or Epilepsy with Myoclonic Absences (EMA). [epilepsygenetics.net]

  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 [mendelian.co]

  (PMID: 10521432) Michelson RJ … Huggenvik JI (The Journal of biological chemistry 1999) 3 4 22 60 Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy. [genecards.org]

  Epilepsy is a common feature in individuals with microcephaly of all causes. 15 In the KIF11 cohort, 3 (8%) of individuals had epilepsy, and two more individuals had a history suggestive of possible seizure activity. [nature.com]

• Pathologist

  The pathologist must note the number and size of portal areas and closely examine the number and shape of the interlobular bile ducts. If at least half of the triads lack identifiable ducts, the diagnosis is confirmed. [nlc-bnc.ca]

  […] treat abnormalities of the digestive system (gastroenterologists), disorders of the urinary tract (urologists), and abnormalities of the ears, nose, and throat (otolaryngologists); pediatric heart specialists (cardiologists); dental specialists; speech pathologists [rarediseases.org]

• Eruptions

  The gingival enlargement usually begins at the time of eruption of the permanent dentition, but can develop with the eruption of the primary dentition. [contempclindent.org]

  […] percentile) 5 macrocephaly excessive growth in the first years of life craniofacial dysmorphisms such as dolichocephaly, prominent forehead, hypertelorism, epicanthic folds, flat nasal bridge, down-slanting palpebral fissures, high arched palate, premature eruption [radiopaedia.org]

  The teeth erupt late, some may be missing and others are often poorly formed. Frontal bossing, sunken cheeks, and thick and everted lips may be part of the facial phenotype. [disorders.eyes.arizona.edu]

  Additional features may include thin, downturned lips; an abnormally long vertical gap between the upper lip (philtrum) and the nose; an abnormally small, underdeveloped jaw (micrognathia); late-erupting, widely-spaced, unusually small teeth; and low-set [rarediseases.org]

  A recent controversy in the British Medical Journal erupted over the question of using genetic testing for "social engineering" by forcing couples to abort fetuses with "undesirable" psychological characteristics or restricting people's right to have [minddisorders.com]

• Night Blindness

  Red-green color blindness C. Facial hair in males D. Night blindness Answer Key 15. Genetic map is one that A. establishes sites of the gene on a chromosome B. Establishes the various stages in gene evolution C. [currentnursing.com]

  Age at referral to Genetic Department 12 y 8 y Weight (kg) 38 30 Height (cm) 149 131 Cataract Bilateral with posterior polar type Bilateral with posterior polar type Age of cataract 3 y 3 y OCT N Alteration of the pigment epithelium ERG N Notion of night-blindness [iovs.arvojournals.org]

  Progressive degeneration of the retina that can advance to near-blindness Night blindness is an early and prominent symptom Atypical retinitis pigmentosa The macula may or may not be affected while peripheral fields are often severely constricted Loss [tsbvi.edu]

  References Retinitis Pigmentosa 1 Clinical Characteristics Ocular Features: Night blindness, the predominant presenting symptom, is often noted in the first decade of life but may not be a significant complaint until the third decade. [disorders.eyes.arizona.edu]

  Modest night-blindness can be seen in patients with KSS. Visual acuity loss is usually mild and only occurs in 40–50% of patients. Cardiac conduction abnormalities These most often occurs years after the development of ptosis and ophthalmoplegia. [findzebra.com]

• Macrocephaly

  For a large head: see causes of macrocephaly. Promoted articles (advertising) [radiopaedia.org]

  […] osteosclerosis, obliteration of the sinuses, middle ear cavities, internal acoustic canals, and optic nerve canals, progressive hearing loss, progressive visual loss (cranial nerve compression, especially of II and VIII), cortical sclerosis of facial bones, macrocephaly [iofbonehealth.org]

  Macrocephaly and low-set posteriorly rotated ears have also been observed. Mutations in the SHOC2 gene are connected to this condition. [genetics.ouhsc.edu]

  aggression Epilepsy, macrocephaly, aggression Synaptic-vesicle associated protein SMS Snyder–Robinson syndrome Macrocephaly, palatal anomalies,scoliosis Spermine synthase PQBP1 Renpenning syndrome, Sutherland–Haan syndrome, Hamel cerebro-palatocardiac [intechopen.com]

  If the child with mental retardation has a head circumference that falls below the 5th percentile (microcephaly) or above the 95th percentile (macrocephaly), a magnetic resonance imaging scan of the brain should be considered. [aafp.org]

• Brachydactyly

  Other common findings include short stature; abnormal head shape and low-set, abnormally shaped ears; downslanting palpebral fissures; a bulbous nasal tip; a thin upper lip; dental defects; and brachydactyly or single palmar creases. [medical-dictionary.thefreedictionary.com]

  […] type A1C GDF5 Brachydactyly type A2 BMP2 Brachydactyly type A2 BMPR1B Brachydactyly type B1 ROR2 Brachydactyly type E1 HOXD13 Brachydactyly-mental retardation syndrome HDAC4 Brachydactyly-syndactyly syndrome HOXD13 Branchiooculofacial syndrome TFAP2A [centogene.com]

  Shuper Mimouni Syndrome Beta-Hydroxyisobutyryl CoA Deacylase Deficiency Beta-Ureidopropionase Deficiency Bilateral Amastia with Ureteral Triplication and Dysmorphism BIRK-LANDAU-PEREZ SYNDROME Bloch-Sulzberger syndrome + Bloom syndrome Bowen Syndrome Brachydactyly [rgd.mcw.edu]

  […] impairment Dysphasia Aphasia Epileptic spasms Speech apraxia Perisylvian polymicrogyria Agnosia Oromotor apraxia Stuttering If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly [mendelian.co]

  […] development The cardinal features consist of characteristic (fetal-like) facies, mesomelic shortening of the forearms, frontal bossing, hypertelorism, wide palpebral fissures, short upturned nose with anteverted nares, long philtrum, receding chin, brachydactyly [icd10data.com]

• Muscle Hypotonia

  A condition (OMIM:614562) characterised by severe mental and psychomotor retardation, muscle hypotonia and poor expressive speech. [medical-dictionary.thefreedictionary.com]

  Neurological examination showed mild diffuse muscle hypotonia, hypotrophy, mild diffuse muscle weakness, joint laxity, scapular winging and increase of lumbar lordosis. [kundoc.com]

  SOFT TISSUE: Muscle weakness, predominantly proximal; Distal muscle weakness may occur; Generalized muscle atrophy; Axial muscle weakness; Neonatal hypotonia; Gowers sign; Muscle biopsy shows centralized nuclei; Myofibrillar disorganization; Type 1 [findzebra.com]

• Torticollis

  Oftentimes they demonstrate torticollis. They may have difficulty directing their hands to a toy, generating a flinging hand motion. [massgeneral.org]

  […] peculiar hair patterns giving the face its characteristic appearance, frequently associated with various neurological, behavioral, cardiovascular, gastrointestinal, dermatoglyphic abnormalities, and occasional sandifer anomaly (abnormal body posturing, torticollis [icd10data.com]

  […] intolerance Muscle weakness Neuropathy + After birth 0.6/dead Other signs Reference Gastrointestinal dysmotility [5] Hearing loss, hypogonadism [5] Acute disseminated encephalomyelitis, drowsiness, spasticity + Sensory defect Heart block Hypoacusia + Torticollis [kundoc.com]

• Impulsivity

  Limb dysmetria Abnormal facial shape Encephalopathy Hyperactivity Autism EEG abnormality Abnormal head movements Mydriasis Attention deficit hyperactivity disorder Akinesia Neoplasm Aggressive behavior Parkinsonism Fasciculations Apathy Postural tremor Impulsivity [mendelian.co]

  Children with Prader-Willi syndrome are often quiet in childhood but develop stubborn, aggressive, or impulsive patterns of behavior as they grow older. [minddisorders.com]

  The most frequent diagnosis in the medical record was behavioral disorder in 30 cases (46.15%), followed by impulse control disorder and schizophrenia; Axis I diagnosis was not stated in 26 cases (40%); there were a total of 54 different diagnoses, some [scielo.org.co]

  […] all 818 ID genes showed a patchwork of very different Biological Process ( Figure 6a ) GO terms, Figure 7a (based on the 84 ID genes with a BR of more than 2) clearly points to cell-cell signaling, synaptic function, and transmission of the nervous impulse [f1000research.com]

  They have also high scores in externalising symptoms secondary to attention deficit disorder, disinhibition and impulsivity, but also at internalising symptoms – shyness, anxiety and depression. [intechopen.com]

• Short Attention Span

  They often are restless and hyperactive and have a short attention span. Their developmental milestones, especially speech development, are delayed. After puberty, the characteristic phenotypical features may appear. [emedicine.medscape.com]

  attention span, delayeddevelopment of speech DISORDERS OF AMINO ACID METABOLISM A condition in which the body cannot break down several amino acids in protein foods and cannot get rid of ammonia, which has a toxic impact Arginase Deficiency Developmental [intechopen.com]

• Aggressive Behavior

  Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. [mendelian.co]

  He also had a depressed affect, aggressive behavior and psychomotor retardation. Another child had psychomotor retardation, microcephaly, growth deficiency, spasticity and dystonia. [massgeneral.org]

  /psychiatric manifestations]; Aggressive behavior; Autistic features MISCELLANEOUS: Hairy elbows become apparent in infancy and regress during adolescence; Facial appearance becomes more apparent with age MOLECULAR BASIS: Caused by mutation in the myeloid [findzebra.com]

• Mood Swings

  Bipolar Disorder - A mental illness characterized by severe mood swings: high energy/invincibility to deep depression/ despair. Also (formerly) called Manic Depression. MZ:DZ concordance values (high:low) indicate genetics is a major player. e. [projects.ncsu.edu]

• Amenorrhea

  Primary Amenorrhea, Secondary Back Pain, Acute Bleeding, Gastrointestinal Breast Mass Dyspepsia Fatigue Hypernatremia Hypocalcemia Jaundice, Neonatal [books.google.com]

  It is characterized by retarded growth, rudimentary ovaries in female genitalia, and amenorrhea (absence of menstruation). [tsbvi.edu]

  Turner's Syndrome (XO) Chromosomal Sex chromosome Non-disjunction of the sex chromosome during Anaphase I of meiosis ------> Monosomy (45,X) Streak gonads, primary amenorrhea, webbed neck, short stature, coarctation of Aorta, infantile genitalia. [kumc.edu]

• Cesarean Section

  He was delivered at term by cesarean section with no prenatal, labor or postnatal complications. He was slightly blue at birth and required oxygen. Mother and infant went home in two days, and no other newborn problems were noted. [aafp.org]

• Ataxia

  Top matches: High match SPINOCEREBELLAR ATAXIA TYPE 21 Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). [mendelian.co]

  (exonic); leucine-rich acidic nuclear protein (LANP), region-specific interaction protein Ataxin-1 Ataxia with ophthalmoparesis, pyramidal and extrapyramidal findings; genetic testing is available; 6% of all autosomal dominant (AD) cerebellar ataxia [accessmedicine.mhmedical.com]

  Pure spastic paraplegia was present in the earliest generation; subsequent generations had ataxia and mental retardation. MRI showed marked atrophy of the spinal cord in all patients and cerebellar atrophy in those with ataxia. [neurology.org]

  Friedrich's Ataxia Friedrich's ataxia is an autosomal recessive condition which results in nerve degeneration in the spinal cord, usually presenting before the age of 25 with muscle weakness, loss of co-ordination and a staggering gait. [diapedia.org]

  X linked ataxia-deafness-optic atrophy syndrome 14 could be excluded on clinical grounds. [jmg.bmj.com]

• Generalized Tonic-Clonic Seizure

  Seizures are common; all types of seizures (absence, generalized tonic-clonic seizures, myoclonic, and focal seizures) have been reported. Most subjects have a happy demeanor with frequent smiling and a sociable personality. [orpha.net]

  tonic-clonic seizures Inability to walk Tetraparesis Exotropia Spastic tetraparesis Athetosis Visceromegaly Abnormality of the skeletal system Vacuolated lymphocytes Oligosacchariduria Aspartylglucosaminuria Short stature Cataract Gait disturbance Absent [mendelian.co]

  The third had global developmental delay, broad-based gait, bruxism, drooling, cortical visual impairment, bilateral ptosis, coarse and curly hair, hearing impairment, and generalized tonic-clonic seizures. [findzebra.com]

• Involuntary Movements

  May be mild resulting in "fidgets" May be severe, intense involuntary movements Even with rehabilitation, the most severe rarely achieve enough motor control to live independent life Intelligence may not be affected Kernicterus Was common when postnatal [en.wikibooks.org]

  Human disorders attributable to a single dominant gene trait conspicuous signs achondroplasia dwarfism, large head, short extremities, short fingers and toes osteogenesis imperfecta bone fragility, deafness Huntington disease involuntary movement, emotional [britannica.com]

• Apraxia

  Hemiparesis Continuous spike and waves during slow sleep Language impairment Dysphasia Aphasia Epileptic spasms Speech apraxia Perisylvian polymicrogyria Agnosia Oromotor apraxia Stuttering If you liked this article maybe you will also find interesting [mendelian.co]

• Abnormal Gait

  In moderately affected cases, children demonstrate an abnormal gait (an abnormal walking pattern). [massgeneral.org]

Other features include a Chief Complaints section addressing the workup and treatment of 50 signs and symptoms, plus a medication index, syndromes glossary, surgical glossary, laboratory values, and tables all for quick reference saving you time and helping [books.google.com]

Many will go undiagnosed until maturity as adults undergoing infertility workups. Fetuses are typically identified during amniocentesis performed for advanced maternal age. They are not normally identified because of an abnormal ultrasound finding. [chw.org]

[…] performed. [3] If there is an affected parent it is unlikely that the child has a deletion extending to WT1, although rare cases have been reported. [3] Tests Table 1: Genetic Tests for Aniridia by Phenotype and Family history [3] Testing Strategy Clinical Workup [eyewiki.aao.org]

It thereby offers an effective option for extensive genetic testing early in the diagnostic workup for children with developmental disorders. [journals.plos.org]

Other features include a Chief Complaints section addressing the workup and treatment of 50 signs and symptoms, plus a medication index, syndromes glossary, surgical glossary, laboratory values, and tables all for quick reference saving you time and helping [books.google.com]

Treatment Treatment Options: Visually significant cataracts may be removed. [disorders.eyes.arizona.edu]

Other: Standard Standard Other Name: Treatment of hypertension, cyst infections and flank pain Active Comparator: 2 Sirolimus plus Standard Treatment Drug: Sirolimus Standard plus Sirolimus Other Name: Rapamune (R) Primary Outcome Measures : renal volume [clinicaltrials.gov]

Identification and treatment of this disorder can be extremely rewarding because patients often benefit greatly with directed treatment of the associated dopamine deficiency state. [massgeneral.org]

Prognosis Patients have a normal life expectancy. However, osteoporosis and respiratory dysfunction are factors for severe morbidity. The documents contained in this web site are presented for information purposes only. [orpha.net]

Course and prognosis The clinical course of the syndrome is characterized by persistent or recurrent episodes of cholestasis triggered by common respiratory infections, especially during the first years of life. [nlc-bnc.ca]

The development in the child after surgery appeared to be normal, indicating that all children with the cloverleaf skull abnormality do not have a dire prognosis. [genome.jp]

Penetrating keratoplasty (PK) may be considered; however, PK alone has a poor prognosis, probably due to the primary limbal stem cell insufficiency. [eyewiki.aao.org]

Etiology : Autosomal dominant inheritance in some cases [6]. Pathogenesis : unknown. [sonoworld.com]

Etiology The perspective of disease etiology can provide beneficial and critical clinical data for diagnostic, prognostic, concept, and convert to treatment. [genecelltissue.com]

The secondary etiology is due to underlying diseases, with no mental deficiency. [scielo.org.co]

The consequences often are moderate to profound MR of unknown etiology. [scielo.br]

Etiology A number of environmental, genetic or multiple factors can cause mental retardation. [aafp.org]

However little data exists about the epidemiological relevance of familial MR. [scielo.br]

Summary Epidemiology Prevalence is unknown; over 80 cases have been described to date. Clinical description AOD has a variable, broad and evolving clinical spectrum. [orpha.net]

Until the advent of epidemiological studies, this question had been difficult to answer. [acnp.org]

Temtamy SA, Kandil MR, Demerdash AM, Hassan WA, Meguid NA, Afifi HH: An epidemiological/genetic study of mental subnormality in Assiut Governorate, Egypt. Clin Genet 1994;46:347–351. [karger.com]

X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology [books.google.com]

Neurotic symptoms are reported to be mainly associated with this syndrome. 3 The exact pathophysiological mechanism underlying the association of psychotic symptoms with CADASIL syndrome is not clearly understood. [gpsych.bmj.com]

O., Lehmer G., Hinderlich S., Reutter W., Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis, Biol Chem., 2009, 390, 591-599. PubMed Google Scholar [58] Rafiq M. [degruyter.com]

Genetics and pathophysiology of mental retardation. Eur J Hum Genet. 2006; 14 (6):701-13. doi: 10.1038/sj.ejhg.5201595. [PubMed: 16721406 ]. 52 Humeau Y, Gambino F, Chelly J, Vitale N. [genecelltissue.com]

[…] contractures Orthopedic appliances and surgical procedures to improve mobility Special education to help with motor problems and intellectual involvement Prevention is great challenge Prevention of kernicterus by phototherapy has helped Providing low-birth [en.wikibooks.org]

It has been observed heterozygous mutations located in the secretion signal of the SOST gene in two CDD patients and demonstrated that these SOST mutations prevent sclerostin secretion resulting in increased bone formation. [iofbonehealth.org]

Genetic disorders are caused by one or more changes, or mutations, in the instruction code of a particular gene(s), preventing the gene(s) from functioning properly. [hihg.med.miami.edu]

Increasingly, a lifelong low-phenylalanine diet is recommended to prevent later deterioration in cognitive functions. [emedicine.medscape.com]