Case report: diagnosis and treatment of attention deficit hyperactivity disorder and autism spectrum disorder in patients diagnosed with oculocutaneous albinism.

Abstract:

:Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by impairment in the melanin synthesis. We report two siblings with OCA who presented with symptoms of autism spectrum disorder and attention deficit hyperactivity disorder (ADHD). Ocular side effects occured after methylphenidate (MPH) treatment in the patient with ADHD and OCA. The diagnosis of OCA has been associated with difficulties in academic and social fields due to decreased visual activity and differentiation of phenotypic characteristics. Delayed diagnosis of comorbid neuropsychiatric disorders and MPH therapy may increase these difficulties. Patients with OCA require careful evaluation and treatment for neuropsychiatric disorders.

journal_name

Neurocase

journal_title

Neurocase

authors

Ünsel Bolat G

doi

10.1080/13554794.2020.1853174

subject

Has Abstract

pub_date

2020-12-01 00:00:00

pages

360-363

issue

6

eissn

1355-4794

issn

1465-3656

journal_volume

26

pub_type

杂志文章
  • Cross-examining dissociative identity disorder: neuroimaging and etiology on trial.

    abstract::Dissociative identity disorder (DID) is probably the most disputed of psychiatric diagnoses and of psychological forensic evaluations in the legal arena. The iatrogenic proponents assert that DID phenomena originate from psychotherapeutic treatment while traumagenic proponents state that DID develops after severe and ...

    journal_title:Neurocase

    pub_type: 杂志文章,评审

    doi:10.1080/13554790801992768

    authors: Reinders AA

    更新日期:2008-01-01 00:00:00

  • Composing alarms: considering the musical aspects of auditory alarm design.

    abstract::Short melodies are commonly linked to referents in jingles, ringtones, movie themes, and even auditory displays (i.e., sounds used in human-computer interactions). While melody associations can be quite effective, auditory alarms in medical devices are generally poorly learned and highly confused. Here, we draw on app...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554794.2016.1253751

    authors: Gillard J,Schutz M

    更新日期:2016-12-01 00:00:00

  • A cognitive chameleon: lessons from a novel MAPT mutation case.

    abstract::We report a case of frontotemporal dementia caused by a novel MAPT mutation (Q351R) with a remarkably long amnestic presentation mimicking familial Alzheimer's disease. Longitudinal clinical, neuropsychological and imaging data provide convergent evidence for predominantly bilateral anterior medial temporal lobe invol...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554794.2013.826697

    authors: Liang Y,Gordon E,Rohrer J,Downey L,de Silva R,Jäger HR,Nicholas J,Modat M,Cardoso MJ,Mahoney C,Warren J,Rossor M,Fox N,Caine D

    更新日期:2014-01-01 00:00:00

  • Gerstmann-Sträussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature.

    abstract::Gerstmann-Sträussler-Scheinker syndrome is a rare autosomal dominant disease caused by a mutation in the prion gene, usually manifesting as progressive ataxia with late cognitive decline. A 44-year-old woman with a positive family history developed early personality and behavior changes, followed by paresthesias and a...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554794.2011.654215

    authors: Rusina R,Fiala J,Holada K,Matějčková M,Nováková J,Ampapa R,Koukolík F,Matěj R

    更新日期:2013-01-01 00:00:00

  • Disorganised memory after right dorsolateral prefrontal damage.

    abstract::Neurophysiological and functional brain imaging studies suggest the importance of dorsolateral area 9/46 for modality-independent working memory. However, the behavioural manifestations following isolated damage to this area have not been clearly outlined. Here, we describe the dramatic derangement of pragmatic memory...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554790490960495

    authors: Ptak R,Schnider A

    更新日期:2004-02-01 00:00:00

  • Neurocognitive functioning of a child with partial trisomy 6 and monosomy 21.

    abstract::This case study describes the neurocognitive presentation of a child with identified genetic abnormalities of trisomy 6 and monosomy 21 who was evaluated as part of a standard medical protocol for cochlear implantation following diagnosis of profound sensorineural hearing loss. This child received neurocognitive testi...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554790802631910

    authors: Katzenstein JM,Oghalai JS,Tonini R,Baker D,Haymond J,Caudle SE

    更新日期:2009-01-01 00:00:00

  • Distinguishing logopenic from semantic & nonfluent variant primary progressive aphasia: Patterns of linguistic and behavioral correlations.

    abstract::While language characteristics of logopenic variant primary progressive aphasia (lvPPA) are well-defined, behavioral characteristics are less understood. We investigated correlations between language and behavioral scores across three variants of primary progressive aphasia (PPA) and found language performance and beh...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554794.2019.1625929

    authors: Keator LM,Wright AE,Saxena S,Kim K,Demsky C,Sebastian R,Sheppard SM,Breining B,Hillis AE,Tippett DC

    更新日期:2019-01-01 00:00:00

  • Dissociation of social cognition and executive function in frontal variant frontotemporal dementia.

    abstract::In this paper, we adopt a neurodevelopmental stance to examining frontal variant frontotemporal dementia (fv-FTD) by using experimental procedures from the literature on the growth of social behaviour in children to examine the deficits in social reasoning which may underpin behavioural disturbance in fv-FTD. We prese...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1093/neucas/7.2.123

    authors: Lough S,Gregory C,Hodges JR

    更新日期:2001-01-01 00:00:00

  • Sensory function in severe semilobar holoprosencephaly.

    abstract::We report a 4-year-old child with severe semi-lobar holoprosencephaly (HPE) not expected to survive after birth. Magnetic resonance imaging (MRI) revealed agenesis of the corpus callosum, absence of the third ventricle, fused thalami and basal ganglia. To investigate sensory function, visual, auditory and somatosensor...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554790802631936

    authors: Liasis A,Hildebrand D,Clark C,Katz X,Gunny R,Stieltjes B,Taylor D

    更新日期:2009-01-01 00:00:00

  • Visual and tactile size distortion in a patient with right neglect.

    abstract::One typical feature of the neglect syndrome in patients with right hemisphere damage is that they bisect horizontal lines to the right of centre. It has been argued that to a large extent these bisection errors can be attributed to a perceptual change whereby the patient experiences the left half of a line as shorter ...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1076/neur.7.5.391.16246

    authors: Pritchard CL,Dijkerman HC,McIntosh RD,Milner AD

    更新日期:2001-01-01 00:00:00

  • Anxiety as the only manifestation of focal non-convulsive status epilepticus: case report and review of the literature.

    abstract::Psychiatric disorders represent common comorbidities in epileptic patients. Sometimes anxiety is part of the ictal semiology, especially during seizures arising from/involving frontal or temporal lobes. We describe a patient with focal epilepsy and recurrent hyperkinetic seizures who also presented prolonged episodes ...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554794.2020.1741647

    authors: Albini M,Morano A,Fattouch J,Fanella M,Avorio F,Basili LM,Cerulli Irelli E,Manfredi M,Giallonardo AT,Di Bonaventura C

    更新日期:2020-04-01 00:00:00

  • Monocular patching affects inattention but not perseveration in spatial neglect.

    abstract::Monocular patching might improve perceptual-attentional, not motor-intentional deficits in a patient with chronic post-stroke left spatial neglect. Performing a line-cancellation task, his omission errors were associated with a perceptual-attentional 'where' deficit, while perseverative errors were associated with 'ai...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554790902776888

    authors: Khurshid S,Longin H,Crucian GP,Barrett AM

    更新日期:2009-08-01 00:00:00

  • Simulating the neural correlates of stuttering.

    abstract::For functional neuroimaging studies of stuttering, two challenges are (1) the elicitation of naturally stuttered versus fluent speech and (2) the separation of activation associated with abnormal motor execution from activation that reflects the cognitive substrates of stuttering. This paper reports on a proof-of-conc...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554794.2013.791863

    authors: den Ouden DB,Montgomery A,Adams C

    更新日期:2014-08-01 00:00:00

  • How number processing survives left occipito-temporal damage.

    abstract::We investigated the neural systems that support number processing in a patient (JL) who had damage to the left ventral occipito-temporal cortex (LvOT). JL had severely impaired written word recognition but he was remarkably accurate in number tasks, albeit slower than normal. This suggests LvOT activation is necessary...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554794.2011.588179

    authors: Cappelletti M,Leff AP,Price CJ

    更新日期:2012-01-01 00:00:00

  • The Influence of refractoriness upon comprehension of non-verbal auditory stimuli.

    abstract::An investigation of non-verbal auditory comprehension in two patients with global aphasia following stroke is reported. The primary aim of the investigation was to establish whether refractory access disorders can affect non-verbal input modalities. All previous reports of refractoriness, a cognitive syndrome characte...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554790802498955

    authors: Crutch SJ,Warrington EK

    更新日期:2008-01-01 00:00:00

  • Constructing calendars in the brain.

    abstract::By studying an enigmatic condition called, "calendar synesthesia", we explored the elusive boundary between perception, visual imagery, and the manner in which we construct an internal mental calendar by mapping time-sequences onto spatial maps. We use a series of demonstrations to establish that these calendars act m...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554794.2019.1694040

    authors: Ramachandran VS,Chunharas C,Marcus Z

    更新日期:2020-02-01 00:00:00

  • Kluver-Bucy syndrome, hypersexuality, and the law.

    abstract::A 51-year-old right-handed man developed hypersexuality after a second right temporal lobectomy to treat epilepsy. His hypersexuality started with increased marital intercourse and masturbation but he later downloaded child pornography. Hyperphagia and distractibility, other features of the Kluver-Bucy syndrome, also ...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554790903329182

    authors: Devinsky J,Sacks O,Devinsky O

    更新日期:2010-04-01 00:00:00

  • Abnormal visual phenomena in posterior cortical atrophy.

    abstract::Individuals with posterior cortical atrophy (PCA) report a host of unusual and poorly explained visual disturbances. This preliminary report describes a single patient (CRO), and documents and investigates abnormally prolonged colour afterimages (concurrent and prolonged perception of colours complimentary to the colo...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554794.2010.504729

    authors: Crutch SJ,Lehmann M,Gorgoraptis N,Kaski D,Ryan N,Husain M,Warrington EK

    更新日期:2011-01-01 00:00:00

  • The effects of prosody on sentence comprehension: evidence from a neurotypical control group and seven cases of chronic stroke.

    abstract::Both prosody and sentence structure (e.g., canonical versus non-canonical) affect sentence comprehension. However, few previous studies have examined a possible interaction between prosody and sentence structure. In adult controls we found a significant interaction: typical sentence prosody, versus list prosody, facil...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554794.2019.1630447

    authors: LaCroix AN,Blumenstein N,Houlihan C,Rogalsky C

    更新日期:2019-01-01 00:00:00

  • White matter changes in patients with hypoxic amnesia.

    abstract::A deficit of declarative memory is a common sequela after a hypoxic episode. While the role of gray matter changes (i.e., atrophy of hippocampal formation) as mainly responsible for memory loss has been emphasized, the role of the white matter damage has so far been neglected. The present study was aimed at evaluating...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554794.2010.497155

    authors: Di Paola M,Moscatelli A,Bigler ED,Caltagirone C,Carlesimo GA

    更新日期:2011-02-01 00:00:00

  • Verbal emotional memory in a case with left amygdala damage.

    abstract::The amygdala nuclei appear to be critically implicated in emotional memory. However, in most studies, encoding and consolidation processes cannot be analyzed separately. We thus studied the verbal emotional memory in a young woman with a ganglioglioma of the left amygdala and analyzed its impact (1) on each step of th...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554794.2015.1037843

    authors: Claire MD,Sophie D,Claudia P,Philippe M,Eliane RP

    更新日期:2016-01-01 00:00:00

  • Isolated prospective confabulation in Wernicke-Korsakoff syndrome: a case for reality filtering.

    abstract::A 57-year-old man suffered severe amnesia and disorientation, accompanied by content-specific confabulation, due to an alcoholic Wernicke-Korsakoff syndrome. For months, he was deeply concerned about a single obligation that he thought he had to respond to, but which he had already assumed 20 years previously. This mo...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554794.2011.654221

    authors: Schnider A,Nahum L,Pignat JM,Leemann B,Lövblad KO,Wissmeyer M,Ptak R

    更新日期:2013-01-01 00:00:00

  • Delusion of inanimate doubles: description of a case of focal retrograde amnesia.

    abstract::This paper reports the case of a patient, M.P., who developed delusion of inanimate doubles, without Capgras syndrome, after traumatic brain injury. His delusional symptoms were studied longitudinally and the cognitive impairments associated with delusion were investigated. Data suggest that M.P. did 'perceive' the ac...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554794.2011.627344

    authors: Abbate C,Trimarchi PD,Salvi GP,Quarenghi AM,Vergani C,Luzzatti C

    更新日期:2012-01-01 00:00:00

  • Atypical association of semantic dementia, corticobasal syndrome, and 4R tauopathy.

    abstract::A 57-year-old male with no family history was diagnosed with semantic dementia. He also showed some unusual cognitive features such as episodic memory and executive dysfunctions, spatial disorientation, and dyscalculia. Rapidly progressive cognitive and physical decline occurred. About 1.5 years later, he developed cl...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554794.2013.841953

    authors: Clerc MT,Deprez M,Leuba G,Lhermitte B,Lopez U,von Gunten A

    更新日期:2015-02-01 00:00:00

  • Two different mechanisms for omission and substitution errors in neglect dyslexia.

    abstract::Neglect dyslexia is a reading disorder often associated with right-sided brain lesions. In reading single words, errors are mostly substitutions or omissions of letters that occupy the left-sided positions. Typically, these errors have been thought to depend on a single mechanism. Conversely, we propose that they are ...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554794.2010.498382

    authors: Martelli M,Arduino LS,Daini R

    更新日期:2011-01-01 00:00:00

  • The effect of virtual visual feedback on supernumerary phantom limb pain in a patient with high cervical cord injury: a single-case design study.

    abstract::We characterized the effect of virtual visual feedback (VVF) on supernumerary phantom limb pain (SPLP) in a patient with high cervical cord injury. The subject was a 22-year-old man diagnosed with complete spinal cord injury (level C2) approximately 5 years ago. We applied the ABA'B' single-case design and set phases ...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554794.2015.1011664

    authors: Katayama O,Iki H,Sawa S,Osumi M,Morioka S

    更新日期:2015-01-01 00:00:00

  • Praxis and writing in a right-hander with crossed aphasia.

    abstract::Studies of patients with brain lesions have demonstrated that language and praxis are mediated by dissociable networks. However, language has the capacity to influence the selection of purposeful actions. The abilities to use language and to program purposeful movements are often mediated by networks that have anatomi...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554794.2013.770883

    authors: Falchook AD,Burtis DB,Acosta LM,Salazar L,Shushrutha Hedna V,Khanna AY,Heilman KM

    更新日期:2014-06-01 00:00:00

  • Is there a schizophasia? A study applying the single case approach to formal thought disorder in schizophrenia.

    abstract::It has been suggested that formal thought disorder, the incoherent speech of schizophrenia, may involve a language disturbance among other abnormalities, or even be a form of dysphasia. Six patients with and seven without formal thought disorder were evaluated on an aphasia test battery. Spontaneous speech was also an...

    journal_title:Neurocase

    pub_type: 临床试验,杂志文章

    doi:10.1093/neucas/8.3.233

    authors: Oh TM,McCarthy RA,McKenna PJ

    更新日期:2002-01-01 00:00:00

  • A slice of pi : an exploratory neuroimaging study of digit encoding and retrieval in a superior memorist.

    abstract::Subject PI demonstrated superior memory using a variant of a Method of Loci (MOL) technique to recite the first digits of the mathematical constant pi to more than 2(16) decimal places. We report preliminary behavioral, functional magnetic resonance imaging (fMRI), and brain volumetric data from PI. fMRI data collecte...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554790902776896

    authors: Raz A,Packard MG,Alexander GM,Buhle JT,Zhu H,Yu S,Peterson BS

    更新日期:2009-10-01 00:00:00

  • The GGGGCC repeat expansion in C9ORF72 in a case with discordant clinical and FDG-PET findings: PET trumps syndrome.

    abstract::A hexanucleotide repeat expansion in the chromosome 9 open reading frame 72 (C9ORF72) gene was recently discovered as the cause underlying frontotemporal degeneration (FTD) and/or amyotrophic lateral sclerosis (ALS) linked to chromosome 9 (c9FTD/ALS). In this atypical case of c9FTD/ALS, the proband presented with amne...

    journal_title:Neurocase

    pub_type: 杂志文章

    doi:10.1080/13554794.2012.732090

    authors: Adeli A,Savica R,Lowe VJ,Vemuri P,Knopman DS,Dejesus-Hernandez M,Rademakers R,Fields JA,Crum BA,Jack CR,Petersen RC,Boeve BF

    更新日期:2014-01-01 00:00:00