Journal of Natural Science, Biology and Medicine

CASE REPORT
Year
: 2020  |  Volume : 11  |  Issue : 2  |  Page : 206--209

Speech-language profile of a child with fahr's disease: Case report of a rare neurodegenerative disorder


Malavika Anakkathil Anil, Rachel Melrita Rebello, Jayashree S Bhat 
 Department of Audiology and Speech Language Pathology, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, Karnataka, India

Correspondence Address:
Malavika Anakkathil Anil
Department of Audiology and Speech Language Pathology, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, Karnataka
India

Abstract

Fahr's disease is a rare, neurodegenerative disorder characterized by abnormal deposits of calcium in areas of the brain that control movement. Cases of Fahr's disease in young children are rarely seen, and limited literature is available on speech and language manifestations. The present case report highlights the early speech and language manifestations of Fahr's disease in a 6-year-old female child. The child presented with deficits in oro-motor functions, with articulatory errors and reduced intelligibility of speech. The oro-motor movements were observed to be slow and sluggish. Language assessment revealed reduced vocabulary and delay in expressive language. Early literacy skills were seen to be emerging. Although the deficits in young children look subtle in comparison to the myriad complications exhibited by adults, the findings have substantial clinical implications. This article expands our understanding of Fahr's disease in children, its nature and onset, early signs and symptoms, assessment protocols to be used, and the possible management strategies. These findings can help researchers, students, and clinicians in clinics as well as research.



How to cite this article:
Anil MA, Rebello RM, Bhat JS. Speech-language profile of a child with fahr's disease: Case report of a rare neurodegenerative disorder.J Nat Sc Biol Med 2020;11:206-209


How to cite this URL:
Anil MA, Rebello RM, Bhat JS. Speech-language profile of a child with fahr's disease: Case report of a rare neurodegenerative disorder. J Nat Sc Biol Med [serial online] 2020 [cited 2020 Nov 26 ];11:206-209
Available from: http://www.jnsbm.org/text.asp?2020/11/2/206/290481


Full Text



 Introduction



Fahr's disease is a rare, inherited neurodegenerative disorder first noted by German Neurologist Karl Theodor Fahr in 1930. It is characterized by abnormal calcium deposits of calcium carbonate and calcium phosphate predominantly in basal ganglia as well as in other areas of the brain that control movement.[1],[2] Fahr's disease is commonly observed to have an autosomal dominant inheritance;[3],[4] however, a few have been reported to have an autosomal recessive inheritance, and in some cases, it is said to be sporadic.[5],[6] An individual is diagnosed with Fahr's disease when the following criteria are met: familial history with autosomal dominant inheritance, absence of infectious, metabolic, traumatic or toxic causes, the presence of bilateral calcification of the basal ganglia, and progressive neurologic dysfunction.[6] The clinical manifestation of Fahr's disease is usually seen between the ages of 30–50 years.[1],[7] Early adult-onset of Fahr's disease primarily presents with the prominent clinical sign of neuropsychiatric symptoms, ranging from mild cognitive impairments of perception and memory to behavioral changes that affect an individual's personality.[8] It is only in the later period, that significant motor and cognitive symptoms appear. Adult's exhibit Parkinson-like symptoms (masked-like facial appearance, rigidity, shuffling gait, and pill-rolling tremor), neuropsychiatric symptoms, dementia, deteriorating speech and motor functions, dysarthria, dysphagia, spastic paralysis, muscle cramping, involuntary movements, athetosis, dystonia, chorea, unsteady gait, clumsiness, and convulsive seizures. Symptoms of fatigability, headaches, ocular impairment, and hypoparathyroidism are also reported.[9] Older individuals exhibit more distinctive neurological symptoms[10] when compared to early identified individuals.

Although Fahr's disease is a well-described neurodegenerative condition in adults, it is very rarely seen in young children with a prevalence rate of <1/1,000,000.[7] The available reports on Fahr's disease cover children older than 10 years, with sparse documentation in ages <10 years. Singhal et al., reported two individuals (14-year-old female and 14-year-old male) of Fahr's disease.[11] The female reported of slowly progressing movement disorder, characterized by poor balance, dystonia, bradykinesia, and psychiatric symptoms of aggressiveness and impulsiveness – the male presented with severe anxiety disorder with poor social interactions. The male also developed motor tics, but with no other motor disorders. Similarly, Rahman et al. also reported a 2-year 9-month-old child with Fahr's Disease.[12] The child had a developmental delay, one episode of seizure, and delayed speech and language output. The available studies only highlight the clinical picture from a motor, behavioral, and psychological perspective with a marginal focus on speech and language abilities. The paucity of documentation is a pressing need and hence, the present case report documents the speech and language abilities of a 6-year-old girl child with the diagnosis of Fahr's disease.

 Case Report



A female child aged 6 years was referred from a private physician to a tertiary care center to the Department of Audiology and Speech-Language Pathology with suspected difficulties in speech and language abilities. The child presented with the complaint of reduced intelligibility of speech for a year. Detailed case history revealed no significant antenatal, natal, and postnatal history, as reported by the parents at the time of evaluation. However, at the age of four, the parents revealed a history of fall, which was followed by vomiting. The fall prompted the physician to conduct a radiological evaluation to rule out any fall-related head trauma. Radiological findings found no intracranial hemorrhage/mass lesion/midline shift. Instead, the conclusions took a surprising turn when the radiological reports highlighted the presence of bilateral symmetrical calcification in the regions of the brain. Calcification was observed in the basal ganglia caudate and lentiform nucleus, thalami, cerebral hemispheric subcortical white matter, and cerebellar dentate nuclei. The other structures, such as the cerebellar hemispheres, cerebral hemisphere parenchyma, brainstem, internal capsule, ventricles, and cortical sulci, were found to be normal. The radiological impression confirmed the findings of Fahr's disease. Following the radiological evaluation, no detailed assessment was conducted for behavioral, physical, cognitive, speech, and language evaluation for 2 years. However, as the child turned six, the parents started to observe a reduction in speech intelligibility.

Detailed speech and language evaluation were carried out based on the presenting complaint. Structural examination of the oral peripheral mechanism revealed all the articulatory structures to be typical in appearance, color, and size. However, the functional assessment of the oral peripheral mechanism revealed speed and range of articulatory movements during nonverbal tasks to be mildly reduced. It was observed that there was a mild limitation in the retraction of the lips and elevation of the tongue. Although swallowing issues were not reported at the time of evaluation, it was observed in the assessment that the child had a mild reduction in range and speed of movements for the mastication of semisolids and solids.

The impact of articulatory deficits was further assessed for a verbal task, which included assessment using Diadochokinetic Syllable Rates and Articulation tests. The child's rate of speech was observed to be slow, the diadochokinetic syllable rates for alternating motion rate (AMR) of/pΛ/,/tΛ/, and/kΛ/was 3.5, 4, 3 syllables per se cond, respectively. It was observed that the child had a frequent intake of breath while performing AMR. The diadochokinetic syllable rates for sequential motion rate of/pΛtΛkΛ/was 1.5 syllables per se cond, with an uncoordinated and slow movement of articulators. Poor performance in diadochokinetic syllable rates could be attributed to the oro-motor impairments in the child. Kannada Diagnostic Photo Articulation Test by Deepa and Savithri was used to assess articulation.[13] The results of the articulation test showed consistent error patterns. The error patterns observed are as given in [Table 1].{Table 1}

The child was stimulable in all modalities and had good interpersonal discrimination of sounds. As the child was not aware of the problem, there was no intrapersonal discrimination of sounds. The parents reported the reduction in speech intelligibility to be progressive for a year, and the errors were observed to be consistent. Speech intelligibility was assessed using the Ali Yavar Jung National Institute for the Hearing Handicapped intelligibility rating scale,[14] where she scored 4. Speech intelligibility was more affected in words with articulatory error sounds. The intelligibility of speech at sentence level was found to be intelligible only on careful listening; however, some words were unintelligible on the conversation with strangers, peer groups, as well as with family members. Her articulatory performance at sentence level was mildly affected with slow scanned speech, which was monotonous in prosody. Subsequent assessments also revealed respiratory performance during a speech to be affected. The child had short utterances per breath intake during conversations. Maximum phonation duration was found to be reduced with an average value of 3–4 s. They were indicating the impact of the disease on most of the speech subsystems.

The language milestones were reported to be delayed by the parents. The child started combining words only at the age of 3.5 years. The child was able to comprehend commands, basic sentences, question forms, few personal pronouns (emerging), prepositions (emerging), and few bound morphemes inconsistently. Language assessment was carried out using assessment of language development developed by Lakkanna et al., in 2008,[15] which revealed the receptive language age to be age adequate (5–5.11 years) and the expressive language age was delayed (4–4.11 years) by 1 year. The components of language were further evaluated using Scales of Language Development Checklist,[16] which revealed Phonological development to be around 4–4.5 years, semantic, syntactic and pragmatic development to be around 4.5–5 years, indicating a delay in several components of language. To check the developmental skills in other domains Communication Developmental Eclectic Approach to Language Learning (DEALL) Developmental Checklist[17] was also administered which revealed gross motor skills and fine motor skills to be around 5.5–6 years, activities of daily living to be around 5–5.5 years, cognitive skills and social skills to be around 4.5–5 years, and emotional skills was 5–5.5 years. Early literacy skill assessment was done using the early literacy Screening Tool by Jayashree et al.,[18] revealed the age of early literacy development to be around 5–6 years. Early literacy Skills assessment revealed print motivation and print awareness to be present. Alphabet knowledge where letter identification in uppercase and lowercase was present; however, matching upper and lower cases were observed to have inconsistent performance. Reading skills were emerging, and the child had not achieved the reading of simple monosyllabic words. Premathematical skills were emerging, and the child had a fair number of recognition and identification. Adequate pencil grip was present, with emerging letter formation and morphology skills.

 Discussion



The present report highlights the early speech and language manifestations of Fahr's disease in a 6-year-old female child. The case report revealed subtle oromotor deficits, articulatory errors, partially affected speech intelligibility, delayed expressive language milestones, and emerging early literacy skills. In the present case, it was observed that in the initial stages, the clinical manifestations of Fahr's disease could be exhibited in the domain of speech and language abilities. The case report is in consensus with a previous case study of a 2-year and 9-month-old child with Fahr's disease,[1] who also reported delayed speech and language output.

So far, radiological evaluation has been promising to identify the presence of calcifications of the brain. However, in cases where radiological evaluation is not conducted or missed, speech-language evaluation can be a useful diagnostic indicator to aid in detailed evaluation. The many impairments in speech and language can make differential diagnosis difficult; nevertheless, a finding as such can form an important puzzle to solve the problems that arise in the early identification of Fahr's disease. Future directions toward studying cases of Fahr's disease should also evaluate for other disorders of calcium metabolism, which will help in differential diagnoses which in the present study was not carried out.

 Conclusion



Every individual with Fahr's disease may benefit if an attempt is made to highlight the speech and language manifestations along with the other manifestations of the condition. Such a report may become a solution to a puzzle that may help the researchers, students, clinicians in expanding their knowledge as well as extending help in similar cases. Documentation will help to understand its nature and onset, early signs and symptoms, assessment protocols to be used, and the recommended management strategies.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

1Malik R, Pandya VK, Naik D. FAHR disease-A rare neurodegenerative disorder. Indian J Radiol Imaging 2004;14:383-4. Available from: http://medind.nic.in/ibn/t04/i4/ibnt04i4p383.pdf. [Last accessed on 2019 Sep 13].
2Asif H, Geetika BV. Fahr's disease. J Indian Acad Clin Med 2007;8:260-1. Available from: http://medind.nic.in/jac/t07/i3/jact07i3p260.pdf. [Last accessed on 2019 Sep 13].
3Billard C, Dulac O, Bouloche J, Echenne B, Lebon P, Motte J, et al. Encephalopathy with calcifications of the basal ganglia in children. A reappraisal of Fahr's syndrome with respect to 14 new cases. Neuropediatrics 1989;20:12-9.
4Quintáns B, Oliveira J, Sobrido MJ. Primary familial brain calcifications. In Handbook of clinical neurology. Elsevier 2018;147:307-17.
5Geschwind DH, Loginov M, Stern JM. Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). Am J Hum Genet 1999;65:764-72.
6Yamada N, Hayashi T. Asymptomatic familial basal ganglia calcification with autosomal dominant inheritance: A family report. No To Hattatsu 2000;32:515-9.
7Manyam BV, Walters AS, Narla KR. Bilateral striopallidodentate calcinosis: Clinical characteristics of patients seen in a registry. Mov Disord 2001;16:258-64.
8Gülsün M, Baykiz AF, Kabatas S, Belli H. Fahr syndrome: Three cases presenting with psychiatric signs. Eur J Gen Med 2006;3:35-40. Available from: https://www.researchgate.net/profile/Serdar_Kabatas/publication/27794660_FAHR_SYNDROME_-_Three_cases_presenting_with_psychiatric_signs/links/0fcfd50ed60926db4f000000.pdf. [Last accessed on 2019 Sep 13].
9Cummings JL, Gosenfeld LF, Houlihan JP, McCaffrey T. Neuropsychiatric disturbances associated with idiopathic calcification of the basal ganglia. Biol Psychiatry 1983;18:591-601.
10Lauterbach EC, Cummings JL, Duffy J, Coffey CE, Kaufer D, Lovell M, et al. Neuropsychiatric correlates and treatment of lenticulostriatal diseases: A review of the literature and overview of research opportunities in Huntington's, Wilson's, and Fahr's diseases. A report of the ANPA Committee on Research. American Neuropsychiatric Association. J Neuropsychiatry Clin Neurosci 1998;10:249-66.
11Singhal N, Haren VK, Wu Y. Fahr's disease: Pediatric presentation of a rare neurodegenerative disorder. Neurology 2012;78:236.
12Rahman JA, Begum RS, Hossain MZ, Ali MR, Rahman M. Fahrs disease: A rare neurodegenerative disorder in children. J Dhaka Med Coll 2011;20:86-8.
13Deepa A, Savithri S. Re-standardization of Kannada Articulation Test. Student Res. AIISH 2010;8:53-65.
14Devised by Speech-language pathology department, AYJNIHH. AYJNIHH intelligibility rating scale; 1984.
15Lakkanna S, Venkatesh K, Bhat JS. Assessment of Language Development. Bakersfield, CA: Omni Therapy Services; 2008.
16Gard A, Gilman L, Gorman J. Speech and language development chart. 1980 Salt Lake City, UT: Word Making Productions.
17Karanth P. Communication DEALL Developmental Checklists. Bangalore: Com DEALL Trust; 2007.
18Jayashree CS, Goswami S, Prathima S, Chaitra S. In: Early literacy screening tool. ISBN Mysore: All India Institute of Speech and Hearing; 2011.