The role of multidisciplinary diagnostic and therapeutic model of care in Lamb-Shaffer syndrome - case report

At the age of 5, the patient was brought by his parents to a specialist psychological–pedagogical clinic in order to assess his current levels of cognitive development and to plan further therapy (Fig. 1). After the initial psychological consultation, a psychological examination with the diagnostic tools presented in Table 1 was planned. The psychologist who performed the diagnosis did not take part in the therapy that followed, in order to prevent the diagnostic process from influencing the therapeutic process.

Table 1 Diagnostic toolsFig. 1figure 1

Diagnostic and therapeutic timeline

Psychological assessmentFirst psychological assessment—baseline

The assessment took place in December 2020. At that time, the patient was 5 years and 10 months old.

The overall intellectual ability measured by the Stanford-Binet 5 Intelligence Scale (Roid 2003; Roid et al. 2018) was at the level of mild intellectual disability [general IQ 53 (lower CI = 50; upper CI = 60); nonverbal IQ 58 (lower CI = 54; upper CI = 67); verbal IQ 55 (lower CI = 51; upper CI = 65)]. The breakdown of the results achieved by the patient indicated that the development of intellectual functions was disharmonic in the nonverbal and the verbal dimensions. No statistically significant difference between verbal and nonverbal abilities was observed, which is why, despite a significant delay in speech development, a decision was made to use the general score for interpretation. In that period, the intellectual functioning of the patient was on the level of a 3-year-old child. Because the degree of impairment of speech development was significantly greater than what would be expected of a patient with mild intellectual disability, a co-diagnosis of intellectual disability and developmental aphasia was made.

Observation during therapy

In June 2021, the patient was observed in a therapeutic class in order to assess his progress and identify potential adjustments to the therapy intervention. The patient still exhibited poor motor coordination. It was observed that he may have trouble with his eyesight, and there was a need to enlarge the therapeutic materials, because the patient was complaining that he could not see them properly. The patient had significantly less trouble with inflection. During the sessions, he was eagerly interacting with both the therapist and the observing psychologist. He was trying to make jokes and include the therapist in his play. However, he had significant troubles with “why?” and “what?” questions. He did not understand the intentions of the person asking, and he did not use hints or help. He also had trouble with joint attention and kept on asking the same questions. He was extremely impulsive, and he had significant difficulty with inhibiting his reactions.

Consultations with parents

Up to December 2021, 12 parents’ consultations were held. During that period, a significant improvement in the father–son bond, an increase in the patient’s independence in terms of self-care activities and greater involvement of the patient in everyday family life (including him in daily duties and chores) were observed.

Second psychological assessment

The second psychological assessment took place in December 2021, when the patient was 6 years and 11 months old. In comparison with the previous assessment, the patient was more capable of holding a conversation and preferred topics that were of interest to him. In comparison to the previous assessment, the patient made better use of hints and help; he needed fewer demonstrations and repetitions in order to learn a new skill. He still exhibited serious trouble with planning his work and often used the trial-and-error approach. The patient was able to make four-element patterns with help; however, his levels of visual analysis and synthesis are worrying in the context of reading and writing.

The overall intellectual ability of the patient measured by the Stanford-Binet 5 scale (Roid 2003; Roid et al. 2018) was at the level of mild intellectual disability [IQ = 57(lower CI = 54; upper CI = 63)]. The statistically significant difference between the nonverbal (IQ = 70 (lower CI = 65; upper CI = 79)) and verbal (IQ = 50 (lower CI = 46; upper CI = 60)) scales was notable, with the non-verbal dimension being at an advantage.

The patient’s intellectual development in the non-verbal dimension was on the border of intellectual disability (still within the norm), while in the verbal dimension, it was at the level of mild intellectual disability. This is a significant change in comparison with the previous examination.

Analysis of the psychogram indicates that the patient exhibited serious difficulties with fluid reasoning. The ability to solve logical tasks based on discovering relationships between different objects was developing on a low level. Neither verbal instructions nor demonstrations helped him understand the essence of a task. In this, the patient’s results did not differ from those observed a year prior (Figs. 2 and 3). The mental age of the patient in relation to this subscale was assessed at 3;5 years.

Fig. 2figure 2

Profilogram of the recalculated results—comparison of first and second intelligence assessments

Fig. 3figure 3

Psychogram—comparison of the first and second intelligence assessments

The level of general knowledge presented by the patient, gathered through both formal education and socio-cultural stimulation, is indicative of appropriate stimulation for development. This metric indicated correct levels of procedural knowledge and general knowledge about the world. The scope of his knowledge and intellectual interests was the patient’s strongest suit. Despite serious language deficits, the patient tried to define words, mainly through how a given thing is used. On this scale, the patient’s mental age is on the level of his actual age, and his IQ on the Knowledge subscale is 91. This may also indicate appropriate selection of educational and therapy tools.

The assessment of quantitative reasoning, understood as the ability to solve problems and mathematical tasks, is developing on a low level. This result indicates severe difficulties understanding the concept of numbers, estimating and/or solving problems and making measurements. The patient also exhibited serious difficulties in terms of even simple counting. He had difficulties understanding the abstract concept of how numbers are written—he dealt better with concrete material. On this scale, the mental age of the patient was at the level of 4;3 years.

He performed visuospatial tasks more poorly than do his peers. He had significant difficulties with identifying patterns and relationships in visual material. His spatial orientation skills were low, as was his ability to understand concepts associated with this domain. This factor was better developed in the nonverbal area, which requires less use of language. The patient had significant difficulties with integrating visual stimuli, which may significantly impact the speed at which he will acquire reading skills. Importantly, after initiating visual therapy classes, a significant improvement in scores for nonverbal visuospatial processing was observed (2020—calculated score, 3; 2021—calculated score, 7).

The patient’s working memory was at a low level. This indicates significant difficulties in developing this category of memory processes, in which information contained in short-term memory is checked and grouped, and operations are performed on it. In this domain, the mental age of the patient was around 3;11.

In order to assess the patient’s adaptive behaviours, the Functional Scale of Social Maturity (Sajewicz-Radtke & Radtke 2023) was used. In the domain of motor development, the patient scored low in terms of fine motor skills (it can be observed that his hands do not have typical dexterity, although they allow for full independence even with low precision of movements). In terms of the gross motor skills, despite his clumsiness, the patient achieved all the milestones for his age. In terms of speech and communication, the patient scored low on speech development, speech understanding and concepts. This is associated with his aphasia diagnosis. His speech was comprehensible to others: he can make small purchases, ask for help, etc. However, this requires the goodwill of his environment. Nonetheless, the patient had trouble with understanding symbolic statements; he had difficulties with the concept of time: he not only did not understand the clock, but also did not understand concepts such as “in some time” and “right after”. The patient also scored low on the scale of social development. He had trouble controlling his behaviour. The patient had trouble understanding and regulating his own emotions. The patient scored low in the practical sphere. He could eat meals on his own, but very clumsily due to getting lost in thought and not being able to direct the food into his mouth. He was not fully able to dress himself yet; he made attempts to do so, and he was very determined in these attempts, but he still required the support of an adult, especially when in a hurry. He used the toilet on his own, and he signalled the need to do so himself. He did not take care of his hygiene on his own; he must always be reminded about the need to wash his hands or his teeth. He needed support when using money. This is an area of intensive natural-environment training: in the local shop, cashiers trained by a psychologist support the patient’s attempts to use money. However, he was still unable to count the right amount of money and he did not always know whether he had enough money. When working one-on-one, he was good at cooperating and listened to feedback and behavioural corrections. When working in a group at the kindergarten, he was somewhat prone to impulsive behaviours and lack of cooperation.

Speech assessment

The patient communicates verbally using complex sentences. He asked his interlocutors questions, but he had difficulties giving answers. He often answered questions based on his experiences or things/situations that he associated with the given topic. It was difficult to get precise answers to questions out of the patient.

In terms of language programming, the patient had a significantly higher active vocabulary of nouns than verbs. Despite the acquired skill of building sentences, due to insufficient knowledge of verbs, the patient often built sentences that did not precisely communicate his needs. The patient had only mastered adjectives as oppositions (e.g. big–small), and only regarding basic characteristics. This skill was usually not used by him in practice, because if an adjective was presented to the patient separately from the opposite word, he was unable to use it. In the case of noun-derived adjectives, the patient usually correctly presented names. His difficulties with learning distinct parts of speech also affected prepositions. The patient, despite a good knowledge of the prepositions “on” (Polish: “na”) and “under” (Polish: “pod”), was unable to differentiate between them (even when working with concrete material). In terms of inflection, the patient usually used the noun declension correctly in the present tense for the following cases: genitive, accusative, instrumental and locative. The use of dative in the present tense was still problematic. More difficult grammatical constructions, such as adverbial sentences (causes), which are necessary in the process of argumentation, were not used by the patient at the time of this evaluation. The patient also had difficulty building sentences in the appropriate tense. When the child was asked what he did today, he answered in the present tense. The use of future tense also comes with difficulty—both in linguistic and cognitive terms. These deficits influenced the comprehensibility of the content of what the patient was trying to communicate.

Apart from language difficulties, the patient also presented deficits in terms of the distribution of muscle tension in the stomatognathic complex. The patient presented incorrect placement of the tongue at rest. Currently, the patient works with a speech–language pathologist in order to improve breathing and desensitize the area beneath the tongue. The patient had also undergone a consultation with an orthodontist and qualified for treatment using a bioblock orthodontic appliance. Moreover, a laryngologist diagnosed the patient with nasal septum deviation (which is to be corrected after the main period of growth). The medical difficulties detailed above affect the patient’s muscular abilities.

Therapy course

The patient started his speech therapy at the age of 2;5 years. The initial state of communication and language did not allow him to establish rapport with the environment. The child did not have basic communication skills, such as eye contact, mimicry and turn taking. However, the patient presented nonverbal communication behaviours, such as crying, pointing at an item that interests him with his eyes, smiling and jumping in his chair. Table 2 describes the stages of the patient’s speech therapy.

Table 2 Stages of the patient’s speech therapy

At the time of the second assessment, the patient could communicate fluently using sentences (in present, past and future tenses), ask questions and take part in dialogue. Development of his linguistic and cognitive processes was supported during the Instrumental Enrichment Basic classes. These classes combine cognitive and language exercises that are appropriate for the patient’s continued developmental needs. In order to do so, the therapists focus on stimulating the following functions: auditory and visual synthesis and analysis, categorising and understanding relations and dependencies.

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