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1.
Front Neurol ; 12: 724969, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34566869

RESUMO

Objective: To determine if elevated rates of autoimmune disease are present in children with both Down syndrome and moyamoya disease given the high rates of autoimmune disease reported in both conditions and unknown etiology of angiopathy in this population. Methods: A multi-center retrospective case-control study of children with Down syndrome and moyamoya syndrome, idiopathic moyamoya disease, and Down syndrome without cerebrovascular disease was performed. Outcome measures included presence of autoimmune disease, presence of autoantibodies and angiopathy severity data. Comparisons across groups was performed using the Kruskal-Wallis, χ2 and multivariate Poisson regression. Results: The prevalence of autoimmune disease were 57.7, 20.3, and 35.3% in persons with Down syndrome and moyamoya syndrome, idiopathic moyamoya disease, and Down syndrome only groups, respectively (p < 0.001). The prevalence of autoimmune disease among children with Down syndrome and moyamoya syndrome is 3.2 times (p < 0.001, 95% CI: 1.82-5.58) higher than the idiopathic moyamoya group and 1.5 times (p = 0.002, 95% CI: 1.17-1.99) higher than the Down syndrome only group when adjusting for age and sex. The most common autoimmune diseases were thyroid disorders, type I diabetes and Celiac disease. No individuals with idiopathic moyamoya disease had more than one type of autoimmune disorder while 15.4% of individuals with Down syndrome and moyamoya syndrome and 4.8% of individuals with Down syndrome only had >1 disorder (p = 0.05, 95%CI: 1.08-6.08). Interpretation: This study reports elevated rates of autoimmune disease in persons with Down syndrome and moyamoya syndrome providing a nidus for study of the role of autoimmunity in angiopathy in this population.

2.
Pediatr Qual Saf ; 6(5): e472, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34589646

RESUMO

Multiple clinic models for Down syndrome exist; one model is the multidisciplinary, specialty clinic, such as the Massachusetts General Hospital Down Syndrome Program (MGH DSP). Methods: Intrateam communication was identified as an area for improvement. Our team developed an intervention, the Passport, a paper-based communication tool passed by parents between clinical teams who evaluated the same patients in different locations. Metrics included an electronic survey of parents and clinicians and tracking the frequency of Passport use. The analysis included the use of Statistical Process Control charts and rules. Results: The parental suggestions for communication-based interactions improved from 54% (32/60) to 17% (3/18) (P < 0.01). Communication scores within the MGH DSP team and between the team and parents were high at 86% and 96%, respectively. Overall satisfaction with the MGH DSP remained consistently high during our project, with a mean score of 6.49 out of 7. The MGH DSP team members reported communication scores with a mean of 85 out of 100. Conclusions: Implementation of a paper Passport tool incorporated parents in the real-time, intraclinic communication between our MGH DSP teams, leading to improved communication suggestions and high marks on the other metrics followed. Such a tool could be useful for other multidisciplinary clinics where team members evaluate the same patients at different locations on the same day.

4.
Int J Pediatr Otorhinolaryngol ; 149: 110868, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34371294

RESUMO

IMPORTANCE: Obstructive sleep apnea (OSA) occurs in 55-97% of people with Down syndrome (DS). Even after adenotonsillectomy, residual OSA often persists into adulthood due, in part, to tongue base collapse. Implantable hypoglossal nerve stimulators are being investigated in children and young adults with DS and persistent, moderate to severe OSA. However, the long-term necessity for such an intervention-especially as patients mature and voltage adjustment becomes warranted-has not been previously reported in the pediatric DS population. OBJECTIVE: To assess the long-term need for implantable hypoglossal nerve stimulators and the necessity for voltage adjustment in children and young adults with Down syndrome. DESIGN: This is a case series from an ongoing clinical trial assessing safety and efficacy of hypoglossal nerve stimulation among 42 children and young adults with DS and persistent OSA, despite adenotonsillectomy and trialed positive airway pressure (PAP) therapy. We focus here on the first 4 participants who have undergone implantation by age 13 and have completed at least 44 months of follow-up. PARTICIPANTS: 4 participants (2 male, 2 female; ages 10-13 years) with DS and persistent, severe OSA (AHI > 10 events/h) underwent hypoglossal nerve stimulator implantation and were followed for 44-58 months. SETTING: Participants completed in-lab sleep studies at baseline (before implantation), 1 year postoperatively, and 44-58 months postoperatively. During their most recent follow-up, 2 participants completed split-night sleep studies in which assessment was done with the device both on and off. INTERVENTIONS: Hypoglossal nerve stimulator implantation. MAIN OUTCOMES AND MEASURES: Stability in titrated and untitrated OSA as measured by the apnea-hypopnea index (AHI); growth measures including BMI; and quality of life as measured by the OSA-18 questionnaire. RESULTS: Compared to baseline, all 4 participants maintained reductions of at least 50% in AHI over the course of follow-up. At recent follow-up, two participants had persistent, moderate OSA despite stimulation therapy. The other two participants achieved 100% reductions in AHI with stimulation therapy; when they underwent split-night sleep studies, the severe OSA persisted with the device turned off. Improvement in OSA-18 quality of life scores was observed in three of the four participants. CONCLUSION: and Relevance: Hypoglossal nerve stimulation continues to effectively control OSA in children with DS as they mature, while their underlying untitrated OSA appears to persist into adulthood. TRIAL REGISTRATION: clinicaltrials.gov Identifier: NCT2344108.


Assuntos
Síndrome de Down , Terapia por Estimulação Elétrica , Apneia Obstrutiva do Sono , Adolescente , Adulto , Criança , Síndrome de Down/complicações , Síndrome de Down/terapia , Feminino , Humanos , Nervo Hipoglosso , Masculino , Qualidade de Vida , Apneia Obstrutiva do Sono/terapia , Resultado do Tratamento , Adulto Jovem
5.
Am J Med Genet A ; 185(11): 3418-3426, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34410034

RESUMO

The mucopolysaccharidoses (MPS) are a group of rare genetic disorders characterized by progressive multisystem disease. We sought to identify the perceptions and support needs of siblings, who often have lifelong relationships and assume important roles for their brothers and sisters with MPS. We designed an online survey to ask siblings about their experiences through a series of Likert statements and open-ended questions. A mixed methods approach was used to analyze the results. We analyzed eligible responses from 97 participants, ages 18.1-61.2 years, who have brothers and sisters with MPS I, II, III, IV, and VI. Participants reported serving as caregivers for their siblings with MPS, at all ages. While over 62% of siblings often felt sad because they have a brother or sister with MPS, over 90% of siblings reported that they like their brothers and sisters and expressed feelings of pride. Siblings wanted information about MPS, guidance for caregiving activities, genetic counseling, and opportunities to connect with other siblings. Families and professionals should acknowledge the unique experiences and needs of siblings, include siblings in medical conversations and care plans when appropriate, and connect siblings to resources for informational and emotional support.

6.
Am J Med Genet A ; 185(10): 2878-2887, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34056836

RESUMO

Respiratory illnesses are a significant contributor of morbidity and mortality among persons with Down syndrome (DS). Reviews have described respiratory illnesses of DS in childhood, but few have looked across the lifespan. Retrospective chart review of patients in our DS program with clinical encounters for respiratory illnesses from 2011 to 2020 was completed. Eighteen percent of clinical encounters were due to respiratory illnesses. Of these, 120 were seen in the emergency department, 88 were admitted, and 21 were seen in urgent care. Common comorbidities included congenital heart disease, asthma, and dysphagia. Admission was common for children under the age of 5 years and adults over the age of 45 years. Admitted patients were more likely to have history of pneumonia and chronic lung disease. Of admitted patients, 77% required supplemental oxygen and 46% required intensive care unit admission. Our findings highlight that respiratory illnesses are a common cause of healthcare utilization among patients with DS, particularly early in childhood and later in life. Patients were seen predominately in outpatient settings; when an inpatient setting was needed, they frequently required higher levels of care. With our findings, clinicians can stratify patients most at risk for respiratory infections and provide targeted monitoring.

7.
Am J Med Genet C Semin Med Genet ; 187(2): 213-215, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33982416

RESUMO

Virgin and Child, a painting attributed to a follower of Andrea Mantegna completed around 1460, is currently in storage at the Museum of Fine Arts in Boston. With special supervised permission, I have visited the painting three times to assess whether this Christ child might have Down syndrome. My conclusion evolved each time-as did my appreciation for the synergy between physicians and art historians.


Assuntos
Síndrome de Down , Medicina nas Artes , Pinturas , Criança , Pessoal de Saúde , Humanos
8.
J Clin Med ; 10(9)2021 Apr 28.
Artigo em Inglês | MEDLINE | ID: mdl-33924960

RESUMO

With improved healthcare, the Down syndrome (DS) population is both growing and aging rapidly. However, with longevity comes a very high risk of Alzheimer's disease (AD). The LIFE-DSR study (NCT04149197) is a longitudinal natural history study recruiting 270 adults with DS over the age of 25. The study is designed to characterize trajectories of change in DS-associated AD (DS-AD). The current study reports its cross-sectional analysis of the first 90 subjects enrolled. Plasma biomarkers phosphorylated tau protein (p-tau), neurofilament light chain (NfL), amyloid ß peptides (Aß1-40, Aß1-42), and glial fibrillary acidic protein (GFAP) were undertaken with previously published methods. The clinical data from the baseline visit include demographics as well as the cognitive measures under the Severe Impairment Battery (SIB) and Down Syndrome Mental Status Examination (DS-MSE). Biomarker distributions are described with strong statistical associations observed with participant age. The biomarker data contributes to understanding DS-AD across the spectrum of disease. Collectively, the biomarker data show evidence of DS-AD progression beginning at approximately 40 years of age. Exploring these data across the full LIFE-DSR longitudinal study population will be an important resource in understanding the onset, progression, and clinical profiles of DS-AD pathophysiology.

9.
J Appl Res Intellect Disabil ; 34(4): 1108-1117, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33759305

RESUMO

PURPOSE: People with Down syndrome (DS) have a unique medical profile which may impact views of health. We aimed to explore the use of global health measures in DS. METHODS: Prospective survey in the Mass General Hospital Down Syndrome Program (MGH DSP) from December 2018 to July 2019 with Patient Reported Outcomes Measurement Information System (PROMIS)® instruments of global health. Analyses included use of scoring manuals, descriptive statistics and dependent samples t test. RESULTS: Seventeen adolescents, 48 adults with DS and 88 caregivers returned surveys; 137 were complete. Incomplete responses and notes showed limitations of the instruments in this population. Global health T-scores did not differ from the available comparative standardized scores to these measures from PROMIS® reference population (p > 0.05). CONCLUSIONS: In the MGH DSP, pilot global health instruments were completed by some adults with DS and caregivers, with some limitations and scores similar to the PROMIS® reference population.


Assuntos
Síndrome de Down , Saúde Global , Deficiência Intelectual , Adolescente , Adulto , Humanos , Estudos Prospectivos , Qualidade de Vida , Inquéritos e Questionários
10.
Am J Med Genet C Semin Med Genet ; 187(1): 70-82, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33385186

RESUMO

The COVID-19 pandemic necessitated a rapid transition from in-person office visits to virtual visits in the Down syndrome specialty program at Massachusetts General Hospital (MGH DSP). We describe the clinic transition to virtual visits in April 2020 and reflect on our six-month experience in virtual visits. Clinic metrics were tracked. Electronic survey responses were collected from caregivers attending virtual visits. Input from the MGH DSP team was collected. From April to September 2020, we maintained patient volume (45 visits per month) and overall satisfaction score (6.7 out of 7) following a sudden, unanticipated transition to virtual visits. Survey of 17 caregivers attending virtual visits found that most were equipped with technology, had access to a private location, and most were able to access visit without any limitations. Caregivers appreciated the convenience of virtual visits but sometimes missed the personal connection of an in-person visit. Overall, though, virtual visits were frequently viewed as no different than office visits. Team members identified benefits and challenges of virtual visits, as well as lessons learned from this transition. We were able to maintain multidisciplinary, specialty care with optimal caregiver feedback and sustained number of patient visits.


Assuntos
Síndrome de Down/epidemiologia , Padrões de Prática Médica/tendências , Telemedicina/métodos , Telemedicina/estatística & dados numéricos , Adolescente , Adulto , Cuidadores , Criança , Pré-Escolar , Síndrome de Down/diagnóstico , Síndrome de Down/terapia , Feminino , Humanos , Lactente , Comunicação Interdisciplinar , Masculino , Equipe de Assistência ao Paciente , Interface Usuário-Computador , Adulto Jovem
11.
J Patient Cent Res Rev ; 8(1): 64-67, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33511255

RESUMO

There is growing recognition of the importance of engaging patients early in the design of research studies. For studies involving patients with intellectual and cognitive disabilities, researchers may consider engaging with family caregivers, health professionals, community advocates, and/or subject matter experts to provide a more multifaceted, surrogate perspective. Evaluating the engagement of these stakeholder groups in research is nascent, and tools are limited. Research studies involving these individuals provide the opportunity to test new methods of measurement of stakeholder engagement in research. We conducted a 3-year research study implementing and evaluating Down Syndrome Clinic to You, an online platform for caregivers of individuals with Down syndrome who do not have access to Down syndrome specialists. We established 3 key stakeholder groups - family caregivers, primary care physicians, and medical/scientific experts in the field - who were involved from grant-writing through preparation of the final report. To assess stakeholder engagement, we utilized the Patient Engagement in Research Scale, a validated instrument originally developed to evaluate patient engagement in arthritis research. Overall, results were suggestive of strong engagement levels by the key stakeholder groups. This study contributes to the limited available literature evaluating measures of stakeholder engagement in research.

13.
Eur J Hum Genet ; 29(3): 402-410, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33130823

RESUMO

We aimed to estimate the nonselective live birth prevalence, actual live birth prevalence, reduction percentage because of selective terminations, and population prevalence for Down syndrome (DS) in European countries. The number of people with DS alive in a country was estimated by first modeling the number of live births of children with DS by year of birth. Subsequently, for these different years of birth, survival curves for people with DS were constructed and then applied to these yearly estimates of live births with DS. For Europe, 2011-2015, we estimate 8,031 annual live births of children with DS, which would have been around 17,331 births annually, absent selective terminations. The estimated reduction of live birth prevalence was, on average, 54%, varying between 0% in Malta and 83% in Spain. As of 2015, we estimate 417,000 people with DS are living in Europe; without elective terminations, there would have been about 572,000 people with DS, which corresponds to a population reduction rate of 27%. Such statistics can be important barometers for prenatal testing trends and resource allocation within countries. Disability awareness initiatives and public policy initiatives can also be better grounded with these more precise estimates.

14.
Cereb Cortex ; 31(2): 757-767, 2021 01 05.
Artigo em Inglês | MEDLINE | ID: mdl-32940649

RESUMO

Down syndrome (DS) is the most common genetic cause of developmental disabilities. Advanced analysis of brain magnetic resonance imaging (MRI) has been used to find brain abnormalities and their relationship to neurocognitive impairments in children and adolescents with DS. Because genetic factors affect brain development in early fetal life, there is a growing interest in analyzing brains from living fetuses with DS. In this study, we investigated regional sulcal folding depth as well as global cortical gyrification from fetal brain MRIs. Nine fetuses with DS (29.1 ± 4.24 gestational weeks [mean ± standard deviation]) were compared with 17 typically developing [TD] fetuses (28.4 ± 3.44). Fetuses with DS showed lower whole-brain average sulcal depths and gyrification index than TD fetuses. Significant decreases in sulcal depth were found in bilateral Sylvian fissures and right central and parieto-occipital sulci. On the other hand, significantly increased sulcal depth was shown in the left superior temporal sulcus, which is related to atypical hemispheric asymmetry of cortical folding. Moreover, these group differences increased as gestation progressed. This study demonstrates that regional sulcal depth is a sensitive marker for detecting alterations of cortical development in DS during fetal life, which may be associated with later neurocognitive impairment.

15.
Genet Med ; 23(1): 163-173, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32879436

RESUMO

PURPOSE: We sought to determine if a novel online health tool, called Down Syndrome Clinic to You (DSC2U), could improve adherence to national Down syndrome (DS) guidelines. We also sought to determine if primary care providers (PCPs) and caregivers are satisfied with this personalized online health tool. METHODS: In a national, randomized controlled trial of 230 caregivers who had children or dependents with DS without access to a DS specialist, 117 were randomized to receive DSC2U and 113 to receive usual care. The primary outcome was adherence to five health evaluations indicated by national guidelines for DS. DSC2U is completed electronically, in all mobile settings, by caregivers at home. The outputs-personalized checklists-are used during annual wellness visits with the patient's PCP. RESULTS: A total of 213 participants completed a 7-month follow-up evaluation. In the intention-to-treat analysis, the intervention group had a 1.6-fold increase in the number of indicated evaluations that were recommended by the primary care provider or completed compared with controls. Both caregivers and PCPs reported high levels of satisfaction with DSC2U. CONCLUSIONS: DSC2U improved adherence to the national DS health-care guidelines with a novel modality that was highly valued by both caregivers and PCPs.


Assuntos
Síndrome de Down , Cuidadores , Criança , Síndrome de Down/diagnóstico , Pessoal de Saúde , Humanos , Satisfação Pessoal
16.
Laryngoscope ; 131(7): 1663-1669, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33264427

RESUMO

OBJECTIVES/HYPOTHESIS: Patients with Down syndrome have a high incidence of obstructive sleep apnea (OSA) and limited treatment options. Hypoglossal stimulation has shown efficacy but has not yet been approved for pediatric populations. Our objective is to characterize the therapy response of adolescent patients with down syndrome and severe OSA who underwent hypoglossal stimulation. STUDY DESIGN: Prospective longitudinal trial. METHODS: We are conducting a multicenter single-arm trial of hypoglossal stimulation for adolescent patients with Down syndrome and severe OSA. Interim analysis was performed to compare objective sleep and quality of life outcomes at 12 months postoperatively for the first 20 patients. RESULTS: The mean age was 15.5 and baseline AHI 24.2. Of the 20 patients, two patients (10.0%) had an AHI under 1.5 at 12 months; nine patients of 20 (45.0%) under five; and 15 patients of 20 (75.0%) under 10. The mean decrease in AHI was 15.1 (P < .001). Patients with postoperative AHI over five had an average baseline OSA-18 survey score of 3.5 with an average improvement of 1.7 (P = .002); in addition, six of these patients had a relative decrease of apneas compared to hypopneas and seven had an improvement in percentage of time with oxygen saturation below 90%. CONCLUSIONS: Patients with persistently elevated AHI 12 months after hypoglossal implantation experienced improvement in polysomnographic and quality of life outcomes. These results suggest the need for a closer look at physiologic markers for success beyond reporting AHI as the gold standard. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:1663-1669, 2021.


Assuntos
Síndrome de Down/complicações , Terapia por Estimulação Elétrica/efeitos adversos , Nervo Hipoglosso , Qualidade de Vida , Apneia Obstrutiva do Sono/terapia , Adolescente , Criança , Terapia por Estimulação Elétrica/instrumentação , Terapia por Estimulação Elétrica/estatística & dados numéricos , Feminino , Humanos , Neuroestimuladores Implantáveis , Estudos Longitudinais , Masculino , Estudos Prospectivos , Índice de Gravidade de Doença , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/etiologia , Falha de Tratamento , Adulto Jovem
17.
Epilepsia Open ; 5(3): 344-353, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32913943

RESUMO

Epilepsy can occur in individuals with Down syndrome (DS), with epileptic spasms representing the most frequent seizure type in this population. Epileptic spasms can have devastating consequences on the development of individuals with the condition. This review sought to explore the lifetime prevalence and underlying mechanism of epileptic spasms in this population. We also aimed to review the response rate to various treatments, the relapse rate, and the development of subsequent epilepsy or autism in this population. A comprehensive literature search was conducted for articles discussing the lifetime prevalence, diagnosis, treatment, outcomes, or underlying etiology of epileptic spasms in animal models or individuals with DS. According to available literature, the global clinic-based lifetime prevalence of epilepsy in individuals with DS ranged from 1.6% to 23.1%, with epileptic spasms representing 6.7%-66.7% of these cases. Response rate to treatment with adrenocorticotropic hormone/corticosteroids was highest (81%) and has the most literature supporting its use, with other regimens, including vigabatrin and other antiepileptic drugs, having lower response rates. Epileptic spasms occur more frequently in children with DS than in the general population, though more studies are needed to determine the true lifetime prevalence of epileptic spasms in this population. Generally, children with DS and epileptic spasms tend to be more responsive to treatment and have better outcomes than children with epileptic spasms of unknown etiology (ie, without DS), in terms of response and relapse rates as well as the development of intractable epilepsy (eg, Lennox-Gastaut syndrome).

18.
J Appl Res Intellect Disabil ; 33(6): 1457-1464, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32662165

RESUMO

BACKGROUND: Individuals with Down syndrome (DS) are less physically active than the general population, but limited data on objective physical activity patterns in adults with DS are available. METHODS: Free-living physical activity was measured by waist-worn accelerometry in adults with DS from 2018 to 2020. Data were analysed using descriptive statistics, bivariate and regression analyses. RESULTS: Fifty-two subjects provided valid accelerometer data, with 46% male and a majority (75%) overweight/obese. Median (± standard deviation) daily sedentary time was 393.5 ± 216.6 min, light activity was 150.7 ± 85.5 min, moderate activity was 6.3 ± 13.5 min, and vigorous activity was 0 ± 9.8 min. Subjects had 10.3 ± 4.8 sedentary bouts per day lasting on average 30.7 ± 62.0 min. Median daily step count was 3,050 ± 1,988. Adults living alone had more steps and light physical activity in adjusted analyses. CONCLUSION: Adults with DS engage in little health-enhancing physical activity and do not meet current physical activity recommendations in the United States.


Assuntos
Síndrome de Down , Deficiência Intelectual , Acelerometria , Adulto , Exercício Físico , Feminino , Humanos , Masculino , Comportamento Sedentário , Estados Unidos
19.
J Child Neurol ; 35(12): 813-819, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32580629

RESUMO

Epileptic spasms are the most common type of seizure in infants with Down syndrome; however, the scope of current literature is largely limited to treatment options. We performed a chart review of patients seen at a Down syndrome specialty clinic to identify potential developmental sequelae of Down syndrome and epileptic spasms. We further interviewed parents of the children with Down syndrome and epileptic spasms to identify areas for improvement in counseling, diagnosis, and follow-up. Persistent developmental delays and autism spectrum disorder were highly prevalent in our patients. Caregivers attributed delays in treatment to insufficient counseling and awareness of epileptic spasms. They also identified inadequate emotional support after the diagnosis of the spasms. When counseling parents of infants with Down syndrome, pediatricians should educate about epileptic spasms. If spasms are diagnosed, providing emotional support with frequent follow-up is important. Furthermore, clinicians should monitor for signs of epilepsy and autism spectrum disorder.

20.
Pediatrics ; 145(6)2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32471843

RESUMO

Down syndrome disintegrative disorder (DSDD), a developmental regression in children with Down syndrome (DS), is a clinical entity that is characterized by a loss of previously acquired adaptive, cognitive, and social functioning in persons with DS usually in adolescence to early adulthood. Initially reported in 1946 as "catatonic psychosis," there has been an increasing interest among the DS community, primary care, and subspecialty providers in this clinical area over the past decade. This condition has a subacute onset and can include symptoms of mood lability, decreased participation in activities of daily living, new-onset insomnia, social withdrawal, autistic-like regression, mutism, and catatonia. The acute phase is followed by a chronic phase in which baseline functioning may not return. No strict criteria or definitive testing is currently available to diagnose DSDD, although a comprehensive psychosocial and medical evaluation is warranted for individuals presenting with such symptoms. The etiology of DSDD is unknown, but in several hypotheses for regression in this population, psychological stress, primary psychiatric disease, and autoimmunity are proposed as potential causes of DSDD. Both psychiatric therapy and immunotherapies have been described as DSDD treatments, with both revealing potential benefit in limited cohorts. In this article, we review the current data regarding clinical phenotypes, differential diagnosis, neurodiagnostic workup, and potential therapeutic options for this unique, most disturbing, and infrequently reported disorder.


Assuntos
Atividades Cotidianas/psicologia , Transtorno Autístico/epidemiologia , Transtorno Autístico/psicologia , Síndrome de Down/epidemiologia , Síndrome de Down/psicologia , Adolescente , Transtorno Autístico/diagnóstico , Catatonia/diagnóstico , Catatonia/epidemiologia , Catatonia/psicologia , Criança , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/psicologia , Síndrome de Down/diagnóstico , Feminino , Humanos , Masculino , Transtornos do Humor/diagnóstico , Transtornos do Humor/epidemiologia , Transtornos do Humor/psicologia , Transtornos Psicóticos/diagnóstico , Transtornos Psicóticos/epidemiologia , Transtornos Psicóticos/psicologia , Literatura de Revisão como Assunto
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