However, it is standard practice to quarantine sick fish to prevent spreading the underlying cause to the other fish in the tank community. [1] Prognosis [ edit ] By the time a disorder reaches the point of causing dropsy, it can often be fatal and at the very least the fish is very ill and requires immediate quarantine and treatment. [1] References [ edit ] ^ a b c David Alderton (2003). ... ISBN 1-931993-11-4 . v t e Aquariums and fishkeeping Aquarium types Freshwater Marine Reef Brackish-water Community Biotope Aquarium décor and equipment Airstone Algae scrubber Berlin Method Bog-wood / Driftwood Calcium reactor Deep sand bed Filter Fishcam Fish feeder Heater Lighting Live rock / Live sand Powerhead Protein skimmer Refugium Substrate Sump Fish terms / types Algae eater Bottom feeder Coldwater Dither Hardy Painted Tropical Fish food Brine shrimp Daphnia Feeder fish Feeder shrimp Infusoria Shrimp mix Tubifex tubifex Other concepts Aquarium fishery Aquascaping Artificial seawater Bath treatment Clean-up crew Disease in ornamental fish Macquarium Project Piaba Reef safe Spawning trigger Water conditioner People Takashi Amano Herbert R.
Clinical Features This disorder, an exaggerated startle reflex, was first described by Beard (1878). His communication was made to the American Neurological Association and consisted of observations among French Canadian lumbermen from the Moosehead Lake region of Maine. ... Writing on the disorder that Beard described, Stevens (1965) cited a personal communication describing 5 affected sibs, offspring of a French Canadian fishing guide in Wedgeport, Nova Scotia.
Jumping Frenchmen of Maine is a condition characterized by an unusually extreme startle response. The exact cause of the condition is unknown. One theory is that the disorder occurs because of an extreme conditioned response to a particular situation influenced by cultural factors. It was first identified during the late nineteenth century in Maine and the Canadian province of Quebec in an isolated population of lumberjacks of French Canadian descent. Jumping Frenchmen of Maine is a type of startle-matching syndrome. These syndromes have been described in many different parts of the world.
These French "jumpers" lived in a very remote region and most were lumberjacks. This type of small community would allow for a majority to adapt to this sort of reaction.
A rare lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional. ... Diagnostic methods Diagnosis is mainly based on prenatal ultrasound showing large hypoechogenic, non-communicating cysts within an irregularly outlined kidney with no visible renal pelvis.
Pulp may be involved but remain within the root anatomy. There is no communication of the lesion with periodontal ligament (PDL). [1] Class IIIa - Complete invagination. It extends through root and communicates with PDL. It usually does not involve the pulp but can cause anatomical malformation. [1] Class IIIb - Complete invagination. It extends through the root and communicates with PDL through apical foramen. Pulpal anatomy may not be directly involved but can cause disruption to the dental anatomy. [1] Histology [ edit ] No irregularities in the dentin below invagination [8] Strains of vital tissue or fine canals that communicates with the pulp could be found [8] Enamel lining irregularly structured [8] External and internal enamel have different structures [8] Management [ edit ] Preventative treatment - e.g. oral hygiene instructions, fissure sealant [3] Intentional replantation [3] Root canal treatment with mineral trioxde aggregate [3] [9] [6] [10] Periapical surgery with retrograde filling [3] [9] [4] Extraction [3] References [ edit ] ^ a b c d e f g h i j A.
Another type of infection has occurred in the wider community — among healthy people. This form, community-associated (CA-MRSA), often begins as a painful skin boil. ... Risk factors Because hospital and community strains of generally occur in different settings, the risk factors for the two strains differ. ... Treatment Both health care-associated and community-associated strains of still respond to certain antibiotics.
Expressive language disorder Specialty Pediatrics Expressive language disorder is a communication disorder in which there are difficulties with verbal and written expression. [1] It is a specific language impairment characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age , but with a language comprehension that is within normal limits. [2] There can be problems with vocabulary, producing complex sentences, and remembering words, [3] and there may or may not be abnormalities in articulation . [2] As well as present speech production , very often, someone will have difficulty remembering things. ... Care must be taken to distinguish expressive language disorder from other communication disorders , sensory-motor disturbances, intellectual disability and/or environmental deprivation (see DSM-IV-TR criterion D). ... In Alberta schools [ edit ] An expressive language disability or delay in kindergarten age children is classified as a Communication Disability/Delay under a Code 30. If there is no marked improvement in the child's ability to express themselves verbally once the student enters Grade 1, a child can be given a Code 57 for a Communication Disability. This diagnosis must be given from a Speech-Language Pathologist in order for the child to receive continued special education funding. [19] See also [ edit ] Auditory processing disorder Developmental verbal dyspraxia Speech-Language Pathology Mixed receptive-expressive language disorder References [ edit ] ^ "Expressive language disorder" . ... "Adult psychosocial outcomes of children with specific language impairment, pragmatic language impairment and autism" . Int J Lang Commun Disord . 44 (4): 511–28. doi : 10.1080/13682820802708098 .
After treatment planning, the Porch Index of Communicative Ability is used to evaluate prognosis and the degree of recovery. [ citation needed ] Imaging [ edit ] fMRI is a measure of the increase in blood flow to localized areas of the brain that coincide with neural activity and is used to image brain activity related to a specific task or sensory process. ... These techniques utilize three general principles: maximizing therapy occurrences, ensuring behavioral and communicative relevance, and allowing patients to focus on the language tools that are still available in his or her repertoire. [ citation needed ] Many of the following treatment techniques are used to improve auditory comprehension in patients with aphasia: Using common words Using concrete nouns is more effective than using adjectives , adverbs , or verbs Using action verbs that are easily imagined Concise and grammatically simple sentences as opposed to lengthy sentences Speaking slowly, repeating oneself several times when conversing with aphasic patients Using gestures [ citation needed ] A relatively new method of language therapy involves coincidence learning. ... This is yet another example of using relationships that are related in the brain for the purpose of rehabilitating speech and comprehension. [10] Of huge importance in aphasia therapy is the need to start practicing as soon as possible. [ citation needed ] Greater recovery occurs when a patient attempts to improve their comprehension and speaking soon after aphasia occurs. [ citation needed ] There is an inverse relationship between the length of time spent not practicing and level of recovery. [ citation needed ] The patient should be pushed to their limits of verbal communication in order for them to practice and build upon their remaining language skills. [10] One effective therapy technique is using what are known as language games in order to encourage verbal communication. [11] One famous example is known as "Builder's Game", where a 'builder' and a 'helper' must communicate in order to effectively work on a project. The helper must hand the builder the tools he or she may need, which requires effective oral communication. The builder succeeds by requesting tools from the assistant by usually using single word utterances, such as 'hammer' or 'nail'. ... In Introduction to neurogenic communication disorders . Burlington, MA: Jones & Barlett Learning.> ^ a b "Common Classifications of Aphasia" .
Lesotho committed itself to the World Health Organization (WHO) goal of having 28,000 people on antiretroviral therapy (ART) by the end of 2005. [19] In May 2004, the first comprehensive HIV/AIDS center to provide ART opened. [16] The Global Fund to Fight AIDS, Tuberculosis and Malaria (Global Fund), international private organizations, local and international nongovernmental organizations (NGOs), and community-based organizations (CBOs) provided the mainstay of the response to HIV/AIDS, especially in the area of community mobilization. [16] Most of these operations were small and localized to specific geographical areas in urban centers. ... Communities are responsible to ensure confidentiality and provide access to post-test services. [22] In 2004, only 2.7% of Basotho adults participated in HTC. ... Political factionalism [ edit ] Turkon (2008) suggested that efforts to combat the HIV/AIDS epidemic in Lesotho are undermined by strong partisan divisions in rural communities. UNAIDS has expressed hope that the HIV/AIDS crisis will be the catalyst for Basotho communities to transcend partisan lines and work together as a unit. [11] Political factions in Lesotho arise from vested interest in governmental control. [11] The people of Lesotho place little trust in the Basotho's political elite to uphold communal values or demonstrate hierarchical reciprocity. ... They often manifest as antagonistic relationships between neighbors in the same village. [11] As a result, community-based approaches to HIV/AIDS treatment are often unsuccessful. [11] Lack of resources [ edit ] Lack of proper resources and lack of access to resources compromises efficacy of HIV treatments. ... Prescribing HIV Prevention: Bringing Culture into Global Health Communication . Vol. 1. N.p.: Left Coast Press, 2015.
Augmentative (e.g., sign language) or alternative (e.g., communication devices) communication may alleviate frustration for the child and promote communication development. ... Children are reported as sociable with a desire to communicate; in some individuals (36%) social skill impairments appear with increasing age and increasing social demands. ... Language development requires focused intervention & augmentative (sign language) or alternative (communication device) support until oral speech & language develops. ... Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies and to support parents in maximizing quality of life. ... Assuming that the individual is safe to eat by mouth, feeding therapy – typically from an occupational or speech therapist – is recommended for affected individuals who have difficulty feeding due to poor oral motor control. Communication issues. Consider evaluation for alternative means of communication (e.g., Augmentative and Alternative Communication [AAC]) used alongside verbal therapies for individuals who have expressive language difficulties.
Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition that is described as cheerful, sociable, and cooperative. They usually have weak muscle tone (hypotonia) in childhood. About half have recurrent seizures (epilepsy). Affected individuals often have distinctive facial features including a high, broad forehead; droopy eyelids (ptosis); a narrowing of the eye openings (blepharophimosis); outer corners of the eyes that point upward (upward-slanting palpebral fissures); skin folds covering the inner corner of the eyes (epicanthal folds); a bulbous nose; and prominent ears. Males with Koolen-de Vries syndrome often have undescended testes (cryptorchidism).
Speech production requires intensive motor speech treatment in preschool years and language development requires focused intervention and augmentative (sign language) or alternative (communication device) support until oral speech and language develops.
Koolen de Vries syndrome is a disorder characterized by developmental delay, mild to moderate intellectual disability, congenital malformations, and behavioral features. Developmental delay is noted from an early age. Other problems include weak muscle tone (hypotonia) in childhood, recurrent seizures (epilepsy), and distinctive facial features. Males with Koolen de Vries syndrome often have undescended testes (cryptorchidism). Other symptoms may include defects in the walls between the chambers of the heart (septal defects) or other heart defects, kidney problems, and skeletal anomalies such as foot deformities. It is caused by mutations in the KANSL1 gene, or by the loss of a small amount of genetic material in chromosome 17 that includes the KANSL1 gene (chromosome 17 q21.31 microdeletion).
A number sign (#) is used with this entry because Koolen-De Vries syndrome can be caused either by heterozygous mutation in the KANSL1 gene (612452) on chromosome 17q21.31 or by a larger deletion of several genes on chromosome 17q21.31. See also chromosome 17q21.31 duplication syndrome (613533). Description Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012). Clinical Features Using array-based comparative genomic hybridization (array CGH) in a study of 1,200 mentally retarded individuals, Koolen et al. (2006) identified 3 individuals with interstitial, overlapping 17q21.31 microdeletions and a clearly recognizable clinical phenotype of mental retardation, hypotonia, and characteristic face. All 3 individuals showed severe hypotonia from birth onwards, leading to severely delayed motor development.
The symptoms of Koolen–de Vreis syndrome can be very variable, and there is no single clinical sign required to establish the diagnosis. [11] Treatment [ edit ] Treatment centres around the symptoms in each individual and can include: early physiotherapy for feeding and motor problems, physiotherapy for strengthening the muscles, speech therapy , sign language , pictures or computer touchscreens for communication, special education , routine antiepileptic medications, orthopaedic care for scoliosis , hip dislocation and positional deformities of the feet, treatment for cardiac, renal, urologic and other medical issues and surgery for cryptorchidism if indicated. [11] History [ edit ] The syndrome is named after Dutch geneticists David A.
Of note, in two individuals with normal hearing, alternative means of communication (such as sign language) improved communication. ... Abnormal vision &/or strabismus Standard treatment(s) per ophthalmologist Community vision services through early intervention or school district Cortical visual impairment No specific treatment; early intervention to help stimulate visual development Hearing Hearing aids may be helpful; per otolaryngologist Community hearing services through early intervention or school district Palatal anomalies &/or craniosynostosis Standardized treatment as recommended by craniofacial team Bowel dysfunction Monitor for constipation. ... Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies (US) and to support parents in maximizing quality of life. ... When feeding dysfunction is severe, an NG-tube or G-tube may be necessary. Communication issues. Consider evaluation for alternative means of communication (e.g., Augmentative and Alternative Communication [AAC]) for individuals who have expressive language difficulties. ... The evaluation will consider cognitive abilities and sensory impairments to determine the most appropriate form of communication. AAC devices can range from low-tech, such as picture exchange communication, to high-tech, such as voice-generating devices.
A majority of known individuals with ASXL3 -related disorder are nonverbal. Use of communication devices with expert speech and language therapy input can often be helpful in these individuals to develop alternate modes of communication, as it appears that receptive language skills may be better than expressive language skills in persons with this disorder. Less commonly, communication through gesture, sounds, words, and sentences has been described. ... Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies (US) and to support parents in maximizing quality of life. ... When feeding dysfunction is severe, an NG-tube or G-tube may be necessary. Communication issues. Consider evaluation for alternative means of communication (e.g, Augmentative and Alternative Communication [AAC]) for individuals who have expressive language difficulties. ... The evaluation will consider cognitive abilities and sensory impairments to determine the most appropriate form of communication. AAC devices can range from low-tech, such as picture exchange communication, to high-tech, such as voice-generating devices.
BDSM is now used as a catch-all phrase covering a wide range of activities, forms of interpersonal relationships , and distinct subcultures. BDSM communities generally welcome anyone with a non-normative streak who identifies with the community; this may include cross-dressers , body modification enthusiasts, animal roleplayers , rubber fetishists , and others. ... Whether it is a public "playspace" — ranging from a party at an established community dungeon to a hosted play "zone" at a nightclub or social event — the parameters of allowance can vary. ... These agreements are binding in the sense that the parties have the expectation that the negotiated rules will be followed. Often other friends and community members may witness the signing of such a document in a ceremony, and so parties violating their agreement can result in loss of face, respect or status with their friends in the community. ... The relationships can be of varied types. [ citation needed ] Long term Early writings on BDSM both by the academic and BDSM community spoke little of long-term relationships with some in the gay leather community suggesting short-term play relationships to be the only feasible relationship models, and recommending people to get married and "play" with BDSM outside of marriage. ... "The Scene" (including use of the definite article the ) is also used in the BDSM community to refer to the BDSM community as a whole.
Some factors identified: the history of psychiatry with conflating sexual and gender identities with psychiatric symptomatology; medical community's history of labelling gender identities such as homosexuality as an illness (now removed from the DSM); the presence of gender dysphoria in the DSM-V; prejudice and rejection from physicians and healthcare providers; LGBTQ+ underrepresentation in research populations; physicians' reluctance to ask patients about their gender; and the presence of laws against the LGBTQ+ community in many countries. [49] [50] General patterns such as the prevalence of minority stress have been broadly studied. [45] There is also a lack of empirical research on racial and ethnic differences in mental health status among the LGBTQ+ community and the intersection of multiple minority identities. [48] Stigmatization of LGBTQ+ individuals with severe mental illnesses [ edit ] There is a significantly greater stigmatization of LGBTQ+ individuals with more severe conditions. ... Lower levels of education a history of exposure to child maltreatment (perpetration and experience); Antisocial personality disorder Community norms that privilege or ascribe higher status to men and lower status to women; Low levels of women's access to paid employment. ... Coping mechanism among the LGBTQ+ community [ edit ] Each individual has its own way to deal with difficult emotions and situations. ... Safe coping-mechanisms, when it comes to mental disorders, involve communication with others, body and mental health caring, support and help seeking. [91] Because of the high stigmatization they often experience in school, public spaces and society in general, the LGBTQ+ community, and more especially the young people among them are less likely to express themselves and seek for help and support, because of the lack of resources and safe spaces available for them to do so. ... PMID 31293486 . ^ Blueprint for the Provision of Comprehensive Care for Trans People and Trans Communities in Asia and the Pacific Archived 2019-04-16 at the Wayback Machine .
International Journal of Language & Communication Disorders . 49 (4): 381–415. doi : 10.1111/1460-6984.12101 . ... International Journal of Language & Communication Disorders . 52 (6): 671–680. doi : 10.1111/1460-6984.12335 . ... International Journal of Language & Communication Disorders . 52 (3): 253–269. doi : 10.1111/1460-6984.12280 . ... International Journal of Language & Communication Disorders . 49 (1): 30–48. doi : 10.1111/1460-6984.12047 . ... International Journal of Language & Communication Disorders . 36 (2): 173–183. doi : 10.1080/13682820120976 .
Other features included restlessness, marked global dementia, severe defects in verbal receptive communication, and near total absence of expressive communication skills, with inability to express any words at any age.
Speech development may be limited to a few words or no speech. Affected individuals often communicate using gestures or by mimicking the expressions of others. ... They may also have behavioral problems, such as attention-deficit/hyperactivity disorder (ADHD) or autistic behaviors that affect communication and social interaction. Affected individuals may have weak muscle tone (hypotonia); delayed development of motor skills, such as sitting, standing, and walking; or recurrent seizures (epilepsy).
SETBP1 disorder is a neurodevelopmental disorder characterized by intellectual disability, mild to moderate developmental delay, autism or autistic traits, and attention deficit. Speech may be absent or delayed. Physical features may include a long face and elongated head (dolichocephaly), eyes that point downwards (downslanting palpebral fissures), and a thin upper lip. SETBP1 disorder is caused by a loss-of-function mutation in one of the two copies of the SETBP1 gene. The SETBP1 gene is located on the long (q) arm of chromosome 18 . Because the features of SETBP1 disorder are common, a genetic test (such as whole exome or genome sequencing) may be needed for diagnosis. A different type of mutation in the SETBP1 gene causes a different and more severe condition called Schinzel Giedion syndrome .
A rare genetic syndromic intellectual disability characterized by moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech), and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and café-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties, and seizures.
A number sign (#) is used with this entry because autosomal dominant mental retardation-29 (MRD29) is caused by heterozygous mutation in the SETBP1 gene (611060) on chromosome 18q12. Clinical Features Coe et al. (2014) reported 9 patients, including 1 reported by Rauch et al. (2012), with frameshift or nonsense mutations in SETBP1 who had a cognitive phenotype ranging from normal with impaired speech to profound intellectual disability (ID). The majority of patients had speech and motor delays, mild dysmorphic features, and behavioral difficulties. Two of the patients had seizures or EEG abnormalities. In addition, the authors reported 1 patient with a deletion encompassing the SETBP1 gene. Coe et al. (2014) also reported on 1 patient studied by Marseglia et al. (2012) and 2 patients studied by Filges et al. (2011).
Patent urachus is a type of congenital urachal anomaly (see this term) characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.
Speech delay is common, but the majority communicate verbally using short sentences; absence of speech has not been reported. ... Family/Community Ensure appropriate social work involvement to connect families w/local resources, respite, & support. ... Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies (US) and to support parents in maximizing quality of life. ... When feeding dysfunction is severe, an NG-tube or G-tube may be necessary. Communication issues. Consider evaluation for alternative means of communication (e.g., Augmentative and Alternative Communication [AAC]) for individuals who have expressive language difficulties. ... The evaluation will consider cognitive abilities and sensory impairments to determine the most appropriate form of communication. AAC devices can range from low-tech, such as picture exchange communication, to high-tech, such as voice-generating devices.
A number sign (#) is used with this entry because of evidence that Sifrim-Hitz-Weiss syndrome (SIHIWES) is caused by heterozygous mutation in the CHD4 gene (603277) on chromosome 12p13. Description Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual developmental disorder with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features (summary by Sifrim et al., 2016 and Weiss et al., 2016). Clinical Features Sifrim et al. (2016) reported 5 unrelated patients, ranging in age from 1 to 16 years, with a syndrome associated with congenital heart defects. Three had tetralogy of Fallot (TOF) or TOF-like features, 1 had an aortic coarctation, and 1 had a septal defect.
., walker or wheelchair for gait abnormalities, augmentative communication devices) and appropriate community resources (e.g., financial services, programs for the visually impaired, special education). ... Miscellaneous/ Other Developmental assessment To incl motor, general cognitive, & vocational skills Speech & language pathologist Speech & communication, augmentative devices Consultation w/clinical geneticist &/or genetic counselor Treatment of Manifestations Eyes Refer those with visual impairment to appropriate community resources. ... Consider use of durable medical equipment as needed (e.g., wheelchairs, walkers, bath chairs, orthotics, adaptive strollers). Communication issues. Consider evaluation for alternative means of communication (e.g., Augmentative and Alternative Communication [AAC]) for individuals who have expressive language difficulties. ... Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies and to support parents in maximizing quality of life. ... Assessment of mobility, self-help skills, and activities of daily living and need for adaptive devices Assessment of speech and communication needs Evaluation of Relatives at Risk See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
A number sign (#) is used with this entry because autosomal recessive spastic paraplegia-35 (SPG35) and its related phenotypes are caused by homozygous mutation in the gene encoding fatty acid 2-hydroxylase (FA2H; 611026). Description Autosomal recessive spastic paraplegia-35 is a complicated form of SPG characterized by childhood onset of gait difficulties due to progressive spastic paraparesis, dysarthria, and mild cognitive decline associated with leukodystrophy on brain imaging. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur (summary by Dick et al., 2010). In addition, some patients with mutations in the FA2H gene have radiographic evidence of neurodegeneration with brain iron accumulation (NBIA), thus expanding the phenotype. Kruer et al. (2010) referred to this phenotypic spectrum of disorders as fatty acid hydrolase-associated neurodegeneration (FAHN).
Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.
Treatment of Manifestations in Individuals with NKX6 - 2 -Related Spastic Ataxia with Hypomyelination View in own window Manifestation/ Concern Treatment Considerations/Other Eyes Standard treatment as per ophthalmology review Community vision services through early intervention or school district Hearing Hearing aids may be helpful as per otolaryngologist. Community hearing services through early intervention or school district Congenital heart defect Standard treatment per cardiologist Respiratory insufficiency Standard treatment as per respiratory review; consider assisted ventilation as appropriate. ... Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies and to support parents in maximizing quality of life. ... For muscle tone abnormalities including hypertonia or dystonia, consider involving appropriate specialists to aid in management of baclofen, tizanidine, Botox ® , anti-parkinsonian medications, or orthopedic procedures. Communication issues. Consider evaluation for alternative means of communication (e.g., Augmentative and Alternative Communication [AAC]) for individuals who have expressive language difficulties. ... The evaluation will consider cognitive abilities and sensory impairments to determine the most appropriate form of communication. AAC devices can range from low-tech, such as picture exchange communication, to high-tech, such as voice-generating devices.
A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss.
A number sign (#) is used with this entry because of evidence that autosomal recessive spastic ataxia-8 (SPAX8) with hypomyelinating leukodystrophy is caused by homozygous mutation in the NKX6-2 gene (605955) on chromosome 8q21. Description Spastic ataxia-8 with hypomyelinating leukodystrophy is an autosomal recessive progressive neurodegenerative disorder characterized by onset of primarily motor dysfunction within the first year of life. Affected individuals initially have hypotonia and later develop ataxia, spasticity, and a pyramidal syndrome with weakness and loss of ambulation. Other features may include dystonia, dysarthria, and abnormal eye movements. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy.