Asperger syndrome in monozygotic twins: Case report

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ARTIGO DE REVISÃO

COSTA, Thalles Ferreira [1], MAREGA, Rodolpho Seabra [2], VIDOTTI, Marcia Zucchi [3]

COSTA, Thalles Ferreira. MAREGA, Rodolpho Seabra. VIDOTTI, Marcia Zucchi. Asperger syndrome in monozygotic twins: Case report. Revista Científica Multidisciplinar Núcleo do Conhecimento. Year 05, Ed. 08, Vol. 16, pp. 05-11. August 2020. ISSN: 2448-0959, Access link: https://www.nucleodoconhecimento.com.br/health/asperger-syndrome

SUMMARY

This study aims to describe a clinical case report on a psychiatric pathology, Asperger’s syndrome. The case report aims to facilitate the diagnosis of the clinical situation, in addition to discerning other global development disorders, since the description of the clinical case can provide references to the characteristics of the disease, in addition to the prognosis. This case seeks to familiarize the medical community with the findings of clinical and psychological examination in patients with such pathology, and also to demonstrate possible diagnosis only clinically.

Keywords: Asperger’s syndrome, autism, Global Developmental Disorders.

INTRODUCTION

Autistic disorder is part of a group of neurodevelopmental disorders called Autism Spectrum Disorders (TEAs). This group shares symptoms in the commitment in three specific areas of development: deficits in social skills, deficits in communicative skills (verbal and non-verbal) and presence of restricted, repetitive and stereotyped behaviors, interests or activities. In addition to autistic disorder, the: Asperger’s syndrome, childhood disintegrative disorder, Rett’s disorder and global developmental disorder without other specification (SILVA; MULICK, 2009). The phenotype of patients with ASD can vary greatly, ranging from individuals with severe intellectual disabilities and low performance in their behaviors, to individuals with normal intelligence, who lead an independent life (GRIESI-OLIVEIRA; SERTIÉ, 2017).

To Maia et al. (2018), ASD has become a serious public health problem, causing economic, family and social impact. Public spending on this disorder was estimated in 2012 to be important. In addition, studies with twins have shown that: in monozygotics, the agreement for autism varies from 36 to 92%, in relation to dizygotics, where the agreement is null or low. However, when considering cognitive and social alterations, the level rises to 92% among monozygotic son and 10% among dizygotics. Another important fact is that, although the risk of recurrence for autism is low (2-8%), the relative risk is often higher than the prevalence of the disease (CARVALHEIRA; VERGANI; BRUNONI, 2004).

According to Zanolla et al. (2015), with the DSM-5 approach, the AsD scans manifested today as: deficits in nonverbal and verbal communication are understood; lack of social reciprocity; inability to develop and maintain friendship relationships; restrictive and repetitive patterns in behavior, interests and activities. In addition, it considers that symptoms should be present in childhood, but may not manifest until social demands exceed the limit of their abilities.

A diagnosis of ASD requires at least 6 behavioral criteria, 1 of each of the 3 clusters of disorders in social interaction, communication and behavior. There are 4 criteria for defining social interactions: impairment in non-verbal forms of communication and social interaction; difficulty in developing relationships; absence of behaviors that indicate experiences or communication, and lack of social or emotional reciprocity; 4 defining criteria of communication: delays in the development of verbal language, impairment in the ability to start or maintain a conversation, stereotyped and repetitive use of language, and lack of subtle play or social imitation; 4 criteria involving behavior: intense and rigid concerns with stereotyped and restricted patterns of interest; difficult to adhering to routines; stereotypical and repetitive wayirisms, and concern for irrelevant parts of objects (KLIN, 2006).

According to Femandes and De Souza (1998), behavioral techniques have already been tested with autistic children. Koegel used them to improve social skills and reduce stereotyped behaviors through self-control. Howlin used procedures such as extinction, differential refinement, timeout, environmental modifications and crisis management to reduce self-destruction. Second-generation antipsychotics are drugs originally developed to treat psychosis. Some medications in this group are: clozapine, risperidone, olanzapine, quetiapine, ziprazidone and aripiprazole. These compounds are widely used in autism to treat poorly adaptive behaviors and have replaced first-generation antipsychotics due to reduced side effects such as haloperidol and chlorpromazine. Pharmacotherapy with antipsychotics reduces aggression, self-harm, destruction of property or crisis of anger. To date, second-generation antipsychotics have been examined in the treatment of autism, even with varying levels of empirical support (NIKOLOV; JONKER; SCAHILL, 2006).

CLINICAL CASE

Date: 05/06/2019, C.J.G. 39 years old and C.J.G. 39 years old, gender: male, evangelical, single, schooling: incomplete first grade, natural and resident in Fernandópolis. Twin patients were referred by the Brasilândia UBS due to anxiety and learning difficulties for reception in CAPS II. Patients, accompanied by their mother, reported that they have anxiety, learning difficulties, restless, difficulties in making friends since childhood. One of them says that he studied until he could read, but has dysgraphia. They report that they were being monitored with another psychiatrist and that they were diagnosed with schizophrenia and autism. They deny recent use of alcohol and illicit drugs. They deny delusions and hallucinations. One of them presents aggressiveness when being contradicted, while the other denies any aggressive act, presenting to be more depressive and tearful. Medications in use: lithium carbonate, clonazepam, nitrazepam, clorplomazin and olanzapine/clonazepam, lithium carbonate, chlorpromazine, citalopram, lamotrigine and olanzapine. They are unaware of clinical comorbidities. They report a history of alcohol consumption, one of which has active smoking, and a history of marijuana use. One of them has suicidal ideation, with no planning of how to perform. They deny a family history of psychiatric comorbidities.

Physical Examination: BEG, hearted, hydrated, acyanotic, anicteric, eupneic, nourished, afebrile.

RESPIRATORY APPARATUS: MV present bilaterally without adventitious noises.

CARDIOVASCULAR DEVICE: BRNF 2 strokes, s/ SA. PA 130/90 and 120/80 mmHg. FC 93 and 86 bpm.

ABD: RHA+, flaccid, negative DB, no visceromegaly and palpable masses.

LLLL: pulses present, without edema.

Neurological: Glasgow 15.

Psychic Examination: self-care preserved, conscious, disorganized thoughts, autopsial and alopsychic orientation present, unchanged vigilance, preserved sleep with medications/insomnia, normal appetite, denies hallucinations, positive insight, social isolation no/yes, mood: unstable and irritated/ unstable, anxious and euphoric, attention without alterations, preserved judgment of reality, adequate/suspicious attitude, irritability yes/no, aggressiveness yes/no, preserved memory, preserved volition, present adinamia, present anhedonia, congruent affections, dependent ADL (daily life activities), denied delusions.

Complementary tests: Unaltered blood counts, transaminase changes (TGP 81/88), lipid profile change (triglycerides 225/185); creatinine and other without alterations.

Diagnostic Hypotheses: Asperger syndrome (F84.5)

Conduct: adjustment of medications and return in 30 days for reassessment.

Date: 11/03/2020, home visit with the doctor, nursing technician and interns of the medical course. One of them was asleep porrem was agreed, collaborative, refers improvement with use of haloperidol decanoate applied on 09/03/2020, denies other complaints. In use of: bupropion and haloperidol decanoate. CD: Maintained medications. Another complains of anxiety, tearful and that he cannot die, denies other complaints. In use of: paroxetine, olanzapine, clonazepam, promethazine, lithium carbonate and chlorpromazine. CD: Adjustment of medications (increased doses of paroxetine and olanzapine).

DISCUSSION

According to Silva and Mulick (2009), ASD frames several psychosocial and cognitive alterations, leading to the individual’s difficulty in interacting with the community.  However, it is possible that some patients reach a relative independent state (GRIESI-OLIVEIRA; SERTIÉ, 2017).

It should be noted that the case report corresponded with the monozygous genetic agreement of Carvalheira; Vergani and Brunoni (2004), and there were signs during childhood, represented by school difficulties, which worsened in adulthood (ZANOLLA et al., 2015).

As described by Klin (2006), the pathology of the study is compatible with the clinical characteristics of the patients, presenting a diagnosis exclusively of Asperger’s, especially in the communicative and cognitive parts, which is considered moderate in degree.

Finally, no laboratory or imaging examination was necessary for the diagnosis, and only sufficient behavioral and pharmacological treatment was necessary. However, there were attempts at behavioral therapies, presented according to Femandes and De Souza (1998), but without success due to non-patient aide. The use of pharmacological therapies was evaluated, as proposed by Nikolov; Jonker and Scahill (2006), with olanzapine, chlorpromazine and haloperidol, revealing positive results of partial remission of symptoms.

FINAL CONSIDERATIONS

In view of the case reported, we can conclude that the diagnosis of Asperger’s Syndrome is complex and only clinical, and that, despite its low prevalence in the population, it is necessary to recognize its signs, performing an adequate and thorough anamnesis, accompanied by a physical examination and quality psychic examination, to diagnose early and start treatment as soon as possible, in order to prevent comorbidities associated with psychiatric disease and reduce the damage in the economic category , family and social.

REFERENCES

CARVALHEIRA, Gianna; VERGANI, Naja; BRUNONI, Décio. Genética do autismo. Rev Bras Psiquiatr, Universidade Federal de São Paulo, São Paulo, SP, Brasil, v. 26, ed. 4, p. 270-272, 28 jun. 2004. Disponível em: http://www.scielo.br/pdf/rbp/v26n4/a12v26n4.pdf. Acesso em: 19 mar. 2020.

FEMANDES, Paula Teixeira; DE SOUZA, Elisabete Abib Pedroso. Síndrome de Asperger: aspectos psicoterapêuticos. Estudos de Psicologia, Faculdade de Ciências Médicas – Unicamp, Cidade Universitária Zeferino Vaz, v. 15, ed. 2, p. 87-90, 1998. Disponível em: http://www.scielo.br/pdf/estpsi/v15n2/06.pdf. Acesso em: 19 mar. 2020.

GRIESI-OLIVEIRA, Karina; SERTIÉ, Andréa Laurato. Transtornos do espectro autista: um guia atualizado para aconselhamento genético. Einstein, Hospital Israelita Albert Einstein, São Paulo, SP, Brasil, v. 15, ed. 2, p. 233-238, 4 maio 2017. Disponível em: http://www.scielo.br/pdf/eins/v15n2/pt_1679-4508-eins-15-02-0233.pdf. Acesso em: 19 mar. 2020.

KLIN, Ami. Autismo e síndrome de Asperger: uma visão geral. Rev Bras Psiquiatr, Yale Child Study Center, Yale University School of Medicine, New Haven, Connecticut, USA, v. 28, ed. Supl I, p. S3-S11, 2006. Disponível em: http://www.scielo.br/pdf/rbp/v28s1/a02v28s1.pdf. Acesso em: 19 mar. 2020.

MAIA, Fernanda Alves et al. Transtorno do espectro do autismo e idade dos genitores: estudo de caso-controle no Brasil. CADERNOS DE SAÚDE PÚBLICA, Universidade Estadual de Montes Claros, Montes Claros, Brasil, v. 34, ed. 8, 6 abr. 2018. Disponível em: https://scielosp.org/pdf/csp/2018.v34n8/e00109917. Acesso em: 19 mar. 2020.

NIKOLOV, Roumen; JONKER, Jacob; SCAHILL, Lawrence. Autismo: tratamentos psicofarmacológicos e áreas de interesse para desenvolvimentos futuros. Rev Bras Psiquiatr, Child Study Center, Yale University School of Medicine, v. 28, ed. Supl I, p. S39-S46, 2006. Disponível em: http://www.scielo.br/pdf/rbp/v28s1/a06v28s1.pdf. Acesso em: 19 mar. 2020.

SILVA, Micheline; MULICK, James A. Diagnosticando o Transtorno Autista: Aspectos Fundamentais e Considerações Práticas. PSICOLOGIA CIÊNCIA E PROFISSÃO, Universidade de Brasília, Instituto de Psicologia, ano 2009, v. 29, ed. 1, p. 116-131, 30 ago. 2008. Disponível em: http://www.scielo.br/pdf/pcp/v29n1/v29n1a10.pdf. Acesso em: 19 mar. 2020.

ZANOLLA, Thais Arbocese et al. CAUSAS GENÉTICAS, EPIGENÉTICAS E AMBIENTAIS DO TRANSTORNO DO ESPECTRO AUTISTA. Cadernos de Pós-Graduação em Distúrbios do Desenvolvimento, Universidade Presbiteriana Mackenzie, v. 15, ed. 2, p. 29-42, 8 dez. 2015. Disponível em: https://www.mackenzie.br/fileadmin/ARQUIVOS/Public/6-pos-graduacao/upm-higienopolis/mestrado-doutorado/disturbios_desenvolvimento/2015/cadernos/2/CAUSAS_GENE__TICAS__EPIGENE__TICAS_E_AMBIENTAIS_DO_TRANSTORNO_DO_ESPECTRO_AUTISTA_.pdf. Acesso em: 19 mar. 2020.

[1] Graduation in progress in Medicine.

[2] Graduation in progress in Medicine.

[3] Guidance counselor. Specialization in Psychiatry. Specialization in Occupational Medicine. Specialization in Family Health. Specialization in Clinical Analysis. Specialization in Public Health. Specialization in Homeopathic Pharmacy. Graduation in Medicine. Graduation in Pedagogy. Graduation in Pharmacy and Biochemistry.

Submitted: August, 2020.

Approved: August, 2020.

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